CYP2D6 allele nomenclature

Allele	Protein		Nucleotide changes,  Gene M33388* *Contains sequencing errors. AY545216 represents CYP2D6*1 without sequencing errors; positions after 600 in M33388 should be numbered with -1 nucleotide (601delC),  positions after 1330 with 0 nucleotides (1330_1331insG), and positions after 1439 with +1 nucleotide (1439_1440insC) as compared with AY545216. CG at position 1289-90 should read GC. All positions in the table are numbered according to M33388.		Region sequenced	XbaI haplotype (kb)	Trivial name	Effect	Enzyme activity		References
									In vivo	In vitro
CYP2D6*1A	CYP2D6.1		None			29	Wild-type		Normal	Normal	Kimura et al., 1989
CYP2D6*1B	CYP2D6.1		3828G>A			29			Normal (d, s)		Marez et al., 1997
CYP2D6*1C	CYP2D6.1		1978C>T				M4		Normal (s)		Marez et al., 1997
CYP2D6*1D	CYP2D6.1		2575C>A				M5				Marez et al., 1997
CYP2D6*1E	CYP2D6.1		1869T>C								Sachse et al., 1997
CYP2D6*1XN	CYP2D6.1					42		N active genes	Incr		Dahl et al., 1995  Sachse et al., 1997
CYP2D6*2A	CYP2D6.2		-1584C>G; -1235A>G; -740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 4180G>C			29	CYP2D6L	R296C; S486T	Normal (dx,d,s)	Normal (b, dx)	Johansson et al., 1993 Panserat et al., 1994 Raimundo et al., 2000 Sakuyama et al., 2008 See also comment below the table.
CYP2D6*2B	CYP2D6.2		1039C>T; 1661G>C; 2850C>T; 4180G>C					R296C; S486T			Marez et al., 1997
CYP2D6*2C	CYP2D6.2		1661G>C; 2470T>C; 2850C>T; 4180G>C					R296C; S486T			Marez et al., 1997 Sachse et al., 1997
CYP2D6*2D	CYP2D6.2		2850C>T; 4180G>C				M10	R296C; S486T			Marez et al., 1997
CYP2D6*2E	CYP2D6.2		997C>G; 1661G>C; 2850C>T; 4180G>C				M12	R296C; S486T			Marez et al., 1997
CYP2D6*2F	CYP2D6.2		1661G>C; 1724C>T; 2850C>T; 4180G>C				M14	R296C; S486T			Marez et al., 1997
CYP2D6*2G	CYP2D6.2		1661G>C; 2470T>C; 2575C>A; 2850C>T; 4180G>C				M16	R296C; S486T			Marez et al., 1997
CYP2D6*2H	CYP2D6.2		1661G>C; 2480C>T; 2850C>T; 4180G>C				M17	R296C; S486T			Marez et al., 1997
CYP2D6*2J			See CYP2D6*59
CYP2D6*2K	CYP2D6.2		1661G>C; 2850C>T; 4115C>T; 4180G>C				M21	R296C; S486T			Marez et al., 1997
CYP2D6*2L  (formerly CYP2D6*41B)	CYP2D6.2		-1298G>A; -1235A>G; -740C>T; 310G>T; 746C>G; 843T>G; 1513C>T; 1661G>C; 1757C>T; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C					R296C; S486T			Gaedigk et al., 2005a
CYP2D6*2M	CYP2D6.2		Variable number of A’s in the region -1258 to -1237^a; -1235A>G; -750_-749delGA; -740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C; 4481G>A					R296C; S486T			Gaedigk et al., 2005b
CYP2D6*2XN (N=2, 3, 4, 5 or 13)	CYP2D6.2		1661G>C; 2850C>T;  4180G>C			42-175		R296C; S486T; N active genes	Incr (d)		Johansson et al., 1993 Dahl et al., 1995  Aklillu et al., 1996
CYP2D6*2T	CYP2D6.2T		Soon to be released
CYP2D6*3A			2549delA			29	CYP2D6A	259Frameshift	None (d, s)	None (b)	Kagimoto et al., 1990
CYP2D6*3B			1749A>G; 2549delA					N166D; 259Frameshift			Marez et al., 1997
CYP2D6*4A			100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 4180G>C			44, 29, 16+9	CYP2D6B	P34S; L91M; H94R; splicing defect; S486T	None (d, s)	None (b)	Kagimoto et al., 1990 Gough et al., 1990 Hanioka et al., 1990
CYP2D6*4B			100C>T; 974C>A; 984A>G; 997C>G; 1846G>A; 4180G>C			29	CYP2D6B	P34S; L91M; H94R; splicing defect; S486T	None (d, s)	None (b)	Kagimoto et al., 1990
CYP2D6*4C			100C>T; 1661G>C; 1846G>A; 3887T>C; 4180G>C			44/29	K29-1	P34S; splicing defect; L421P; S486T	None		Yokota et al., 1993
CYP2D6*4D			100C>T; 1039C>T; 1661G>C; 1846G>A; 4180G>C					P34S; splicing defect; S486T	None (dx)		Marez et al., 1997
CYP2D6*4E			100C>T; 1661G>C; 1846G>A; 4180G>C					P34S; splicing defect; S486T			Marez et al., 1997
CYP2D6*4F			100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 1858C>T;  4180G>C					P34S; L91M; H94R; splicing defect; R173C; S486T			Marez et al., 1997
CYP2D6*4G			100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 2938C>T; 4180G>C					P34S; L91M; H94R; splicing defect; P325L; S486T			Marez et al., 1997
CYP2D6*4H			100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 3877G>C; 4180G>C					P34S; L91M; H94R; splicing defect; E418Q; S486T			Marez et al., 1997
CYP2D6*4J			100C>T; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A					P34S; L91M; H94R; splicing defect			Marez et al., 1997
CYP2D6*4K			100C>T; 1661G>C; 1846G>A; 2850C>T; 4180G>C					P34S; splicing defect; R296C; S486T	None		Sachse et al., 1997
CYP2D6*4L			100C>T; 997C>G; 1661G>C; 1846G>A; 4180G>C					P34S; splicing defect; S486T			Shimada et al., 2001
CYP2D6*4M			-1235A>G; 746C>G; 843T>G 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 2097A>G; 3384A>C; 3582A>G; 4401C>T					L91M; H94R; splicing defect			Agundez at el., 1997 Fuselli et al., 2004 Gaedigk et al., 2006
CYP2D6*4N Found in a gene duplication			-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 746C>G; 843T>G; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 2097A>G; 3384A>C; 3582A>G; gene conversion to CYP2D7 in exon 9; 4180G>C; 4401C>T					P34S; L91M; H94R; splicing defect; P469A; T470A; H478S; G479R; F481V; A482S; S486T			Gaedigk et al., 2006
CYP2D6*4P			-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 746C>G; 843T>G; 974C>A; 984A>G; 997C>G; 1661G>C; 1846G>A; 2097A>G; 2576C>T; 3384A>C; 3435C>A; 3582A>G; 4180G>C; 4401C>T					P34S; L91M; H94R; splicing defect; P268S; S486T			Dodgen et al., 2013
CYP2D6*4X2						32+9			None		Løvlie et al., 1997 Sachse et al., 1998
CYP2D6*5			CYP2D6 deleted			11.5 or 13	CYP2D6D	CYP2D6 deleted	None (d, s)		Gaedigk et al., 1991 Steen et al., 1995
CYP2D6*6A			1707delT			29	CYP2D6T	118Frameshift	None (d, dx)		Saxena et al., 1994
CYP2D6*6B			1707delT; 1976G>A			29		118Frameshift	None (s, d)		Evert et al., 1994 Daly et al., 1995
CYP2D6*6C			1707delT; 1976G>A; 4180G>C					118Frameshift	None (s)		Marez et al., 1997
CYP2D6*6D			1707delT; 3288G>A					118Frameshift			Marez et al., 1997
CYP2D6*7	CYP2D6.7		2935A>C			29	CYP2D6E	H324P	None (s)		Evert et al., 1994
CYP2D6*8			1661G>C; 1758G>T; 2850C>T; 4180G>C				CYP2D6G	G169X	None (d, s)		Broly et al., 1995
CYP2D6*9	CYP2D6.9		2615_2617delAAG			29	CYP2D6C	K281del	Decr (b,s,d)	Decr (b,s,d)	Tyndale et al., 1991 Broly & Meyer, 1993
CYP2D6*9x2	CYP2D6.9		2615_2617delAAG					K281del			Gaedigk et al., 2011b
CYP2D6*10A	CYP2D6.10		100C>T; 1661G>C; 4180G>C			44, 29	CYP2D6J	P34S; S486T	Decr (s)	Decr (b, dx)	Yokota et al., 1993 Sakuyama et al., 2008
CYP2D6*10B	CYP2D6.10		-1426C>T; variable number of A’s in the region -1258 to -1237^a; -1235A>G;  -1000G>A; 100C>T; 1039C>T; 1661G>C; 4180G>C			44, 29	CYP2D6Ch1	P34S; S486T	Decr (d)	Decr (b)	Johansson et al., 1994
CYP2D6*10C		see CYP2D6*36
CYP2D6*10D	CYP2D6.10		100C>T; 1039C>T; 1661G>C; 4180G>C, CYP2D7-like 3'-flanking region			46		P34S; S486T			Ishiguro et al., 2004
CYP2D6*10X2	CYP2D6.10					42			Decr         (dx)		Garcia-Barceló et al., 2000 Ji et al., 2002 Mitsunaga et al., 2002 Ishiguro et al., 2004
CYP2D6*11			883G>C; 1661G>C; 2850C>T; 4180G>C			29	CYP2D6F	Splicing defect; R296C; S486T	None (s)		Marez et al., 1995
Example of a fully sequenced CYP2D6*11 allele			-1770G>A; -1584C>G; -1235A>G; -740C>T; -678G>A; intron 1 conversion with CYP2D7 (214-245); 310G>T; 746C>G; 843T>G; 883G>C; 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C; 4481G>A		Up to -1887 (Chr22(GRCh37):g.42528685-42521828)						Skierka et al., 2012
CYP2D6*12	CYP2D6.12		124G>A; 1661G>C; 2850C>T; 4180G>C			29		G42R; R296C; S486T	None (s)		Marez et al., 1996
CYP2D6*13 alleles				All CYP2D6*13 alleles share a CYP2D7/2D6 hybrid gene structure, with CYP2D7 sequence in exon 1 leading to an insertion (137_138insT) and frameshift of the open reading frame, thereby obliterating enzyme activity. The following GenBank entries of CYP2D7/2D6 hybrid allelic variants all share a CYP2D7-derived exon 1 with the detrimental T-insertion, but differ in respect to the region in which CYP2D7 switches to CYP2D6. Some switch regions contain sequences that may be interrelated as CYP2D6 or CYP2D7; therefore, exact switch regions cannot be determined or remain open to interpretation. There is no diagnostic SNP for CYP2D6*13, and thus assigning it is best done by sequencing the entire gene region. See Sim et al., 2012 for more information.				Frameshift	None		Panserat et al., 1995
			Genbank accession number			Sequence description
			EU098008 (Originally called CYP2D6*13, temporarily called CYP2D6*13A1)			CYP2D7/2D6 hybrid gene with switch region in intron 1. Found as a single gene or in tandem arrangements with one or multiple CYP2D6*1.					Panserat et al., 1995 Black et al., 2012
			GQ162807 (Originally called CYP2D6*77, temporarily called CYP2D6*13A2)			CYP2D7/2D6 hybrid gene with switch region in intron 1. Switch region downstream compared to that of EU098008. Found in a tandem arrangement with CYP2D6*2.					Gaedigk et al., 2010a
			HM641839 (Originally called CYP2D6*79, temporarily called CYP2D6*13B)			CYP2D7/2D6 hybrid gene with switch region in exon 2. Found as a single gene and in a tandem arrangement with CYP2D6*2.					Gaedigk et al., 2010b
			HM641840 (Originally called CYP2D6*80, temporarily called CYP2D6*13C)			CYP2D7/2D6 hybrid gene with switch region in intron 2-exon 3. Found as a single gene.					Gaedigk et al., 2010b
			GQ162808 (Originally called CYP2D6*78, temporarily called CYP2D6*13D)			CYP2D7/2D6 hybrid gene with switch region in intron 4. Found in tandem arrangement with CYP2D6*2.					Gaedigk et al., 2010a
			EU098009 (Originally called CYP2D6*67, temporarily called CYP2D6*13E)			CYP2D7/2D6 hybrid gene with switch region in exon 5. Found as a single gene.					Gaedigk et al., 2010b
			EU093102 (Originally called CYP2D6*16 and CYP2D6*66, temporarily called CYP2D6*13F)			CYP2D7/2D6 hybrid gene with switch region in exon 7-intron 8. Variants of this hybrid exist which have the same switch region characteristics, but differ by one or a few nucleotides. Found as a single gene.					Daly et al., 1996 Gaedigk et al., 2008a
			JN618990 (Temporarily called CYP2D6*13G1)			CYP2D7/2D6 hybrid gene with switch region in intron 7. Found as a single gene.					Black et al., 2012
			HQ670229 (Temporarily called CYP2D6*13G2)			CYP2D7/2D6 hybrid gene with switch region in intron 7. Found as a single gene.					Black et al., 2012
			GQ162806 (Originally called CYP2D6*76, temporarily called CYP2D6*13H)			CYP2D7/2D6 hybrid gene with switch region in exon 9. Found in tandem arrangement with CYP2D6*1.					Gaedigk et al., 2010a
Continuing Allele	Protein		Nucleotide changes			XbaI hap	Trivial name	Effect	In vivo	In vitro
CYP2D6*14A	CYP2D6.14A		100C>T; 1758G>A; 2850C>T; 4180G>C			29		P34S; G169R; R296C; S486T	None (d)	None (b, dx)	Wang, 1992 Wang et al., 1999 Sakuyama et al., 2008
CYP2D6*14B	CYP2D6.14B		intron 1 conversion with CYP2D7 (214-245); 1661G>C; 1758G>A; 2850C>T; 4180G>C					G169R; R296C; S486T		Decr (b)	Ji et al., 2002 Sakuyama et al., 2008
CYP2D6*15			137_138insT			29		46Frameshift	None (d, dx)		Sachse et al., 1996
CYP2D6*16			See CYP2D6*13 for details
CYP2D6*17	CYP2D6.17		1023C>T; 1661G>C; 2850C>T; 4180G>C			29	CYP2D6Z	T107I; R296C; S486T	Decr (d)	Decr (b)	Masimirembwa et al., 1996 Oscarson et al., 1997
CYP2D6*17XN	CYP2D6.17										Cai et al., 2006
CYP2D6*18	CYP2D6.18		4125_4133dupGTGCCCACT			29	CYP2D6(J9)	468_470dupVPT	None (s)	Decr (b, dx)	Yokoi et al., 1996 Sakuyama et al., 2008
CYP2D6*19			1661G>C; 2539_2542delAACT; 2850C>T; 4180G>C					255Frameshift	None		Marez et al., 1997
CYP2D6*20			1661G>C; 1973_1974insG; 1978C>T; 1979T>C; 2850C>T; 4180G>C					211Frameshift	None (m)		Marez-Allorge et al., 1999
CYP2D6*21A			-1584C>G; -1426C>T; variable number of A’s in the region -1258 to -1237^a; -1235A>G; -740C>T; -678G>A; -629A>G; 214G>C; 221C>A; 223C>G; 227T>C; 310G>T; 601delC; 1661G>C; 2573_2574insC; 2850C>T; 3584G>A; 4180G>C					267Frameshift	None		Chida et al., 1999
CYP2D6*21B			-1584C>G; -1235A>G; -740C>T; -678G>A; intron 1 conversion with CYP2D7 (214-245); 1661G>C; 2573_2574insC; 2850C>T; 4180G>C					267Frameshift	None		Yamazaki et al., 2003 More detailed information submitted 7-May-2002 by Dr. Jae-Gook Shin.
CYP2D6*22	CYP2D6.22		82C>T				M2	R28C			Marez et al., 1997
CYP2D6*23	CYP2D6.23		957C>T				M3	A85V			Marez et al., 1997
CYP2D6*24	CYP2D6.24		2853A>C				M6	I297L			Marez et al., 1997
CYP2D6*25	CYP2D6.25		3198C>G				M7	R343G			Marez et al., 1997
CYP2D6*26	CYP2D6.26		3277T>C				M8	I369T			Marez et al., 1997
CYP2D6*27	CYP2D6.27		3853G>A				M9	E410K		Normal (b, dx)	Marez et al., 1997 Sakuyama et al., 2008
CYP2D6*28	CYP2D6.28		19G>A; 1661G>C; 1704C>G; 2850C>T; 4180G>C				M11	V7M; Q151E; R296C; S486T			Marez et al., 1997
CYP2D6*29	CYP2D6.29		1659G>A; 1661G>C; 2850C>T; 3183G>A; 4180G>C				M13	V136I; R296C; V338M; S486T	Decr.	Decr.	Marez et al., 1997 Wennerholm et al., 2001 Wennerholm et al., 2002
CYP2D6*30	CYP2D6.30		1661G>C; 1863_1864insTTTCGCCCC; 2850C>T; 4180G>C				M15	174_175insFRP; R296C; S486T			Marez et al., 1997
CYP2D6*31	CYP2D6.31		-1770G>A; -1584C>G; -1235A>G; -740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4042G>A; 4180G>C; 4481G>A				M20	R296C; R440H; S486T	None	None	Marez et al., 1997 Allorge et al., 2005 Gaedigk et al., 2010a
CYP2D6*32	CYP2D6.32		1661G>C; 2850C>T; 3853G>A; 4180G>C				M19	R296C; E410K; S486T			Marez et al., 1997
CYP2D6*33	CYP2D6.33		2483G>T				CYP2D6*1C	A237S	Normal (s)		Marez et al., 1997
CYP2D6*34	CYP2D6.34		2850C>T				CYP2D6*1D	R296C			Marez et al., 1997
CYP2D6*35A	CYP2D6.35		-1584C>G; 31G>A; 1661G>C; 2850C>T; 4180G>C				CYP2D6*2B	V11M; R296C; S486T	Normal (s)		Marez et al., 1997 Gaedigk et al., 2003a
CYP2D6*35B	CYP2D6.35		-1770G>A; -1584C>G; -1235A>G; -740C>T; -678G>A; CYP2D7 conversion upstream of exon 1 (-225 to -431); -138A>G; 31G>A; 310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C; 4481G>A					V11M; R296C; S486T			Gaedigk et al., 2010b
CYP2D6*35X2	CYP2D6.35		31G>A; 1661G>C; 2850C>T; 4180G>C					V11M; R296C; S486T	Incr		Griese et al., 1998
CYP2D6*36 Dupl. or tandem	CYP2D6.36		-1426C>T; variable number of A’s in the region -1258 to -1237^a; -1235A>G; -1000G>A; 100C>T; 1039C>T; 1661G>C; gene conversion to CYP2D7 in exon 9; 4180G>C			44, 29	CYP2D6Ch2	P34S; P469A; T470A; H478S; G479R; F481V; A482S; S486T	Negligible (d)	Negligible (b)	Wang, 1992 Johansson et al., 1994 Leathart et al., 1998
CYP2D6*36 Single	CYP2D6.36		-1426C>T;  -1235A>G;  -1000G>A; 100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 2097A>G; 3384A>C; 3582A>G; gene conversion to CYP2D7 in exon 9; 4180G>C					P34S; P469A; T470A; H478S; G479R; F481V; A482S; S486T	Negligible (d)	Negligible (b, dx)	Gaedigk et al., 2006 Sakuyama et al., 2008
CYP2D6*37	CYP2D6.37		100C>T; 1039C>T; 1661G>C; 1943G>A; 4180G>C;				CYP2D6*10D	P34S; R201H; S486T			Marez et al., 1997
CYP2D6*38			2587_2590delGACT				N2	271Frameshift	None		Leathart et al., 1998
CYP2D6*39	CYP2D6.39		1661G>C; 4180G>C					S486T		Normal (b, dx)	Shimada et al., 2001 Sakuyama et al., 2008
CYP2D6*40	CYP2D6.40		1023C>T; 1661G>C; 1863_1864insTTTCGCCCCx2; 2850C>T; 4180G>C					T107I; 174_175insFRPx2; R296C; S486T	None (dx)		Gaedigk et al., 2002
CYP2D6*41	CYP2D6.2		-1235A>G; -740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 2988G>A; 4180G>C					R296C; splicing defect; S486T	Decr (s)	Decr	Raimundo et al., 2000 Raimundo et al., 2004 Toscano et al., 2006 Rau et al., 2006
CYP2D6*42			1661G>C; 2850C>T; 3259_3260insGT; 4180G>C					R296C; 363Frameshift	None (dx)		Gaedigk et al., 2003b
CYP2D6*43	CYP2D6.43		77G>A				M1	R26H			Marez et al, 1997
CYP2D6*44			82C>T; 2950G>C					Splicing defect	None		Yamazaki et al., 2003
CYP2D6*45A	CYP2D6.45		-1601_-1600GA>TT; variable number of A’s in the region -1258 to -1237^a; -1094_-1093insA; -1011T>C; 310G>T; 746C>G; 843T>G; 1661G>C; 1716G>A; 2129A>C; 2575C>A; 2661G>A; 2850C>T; 3254T>C; 3384A>C; 3584G>A; 3790C>T; 4180G>C					E155K; R296C; S486T	Functional (normal or decreased)		Gaedigk et al., 2005a
CYP2D6*45B	CYP2D6.45		-1543G>A; -1298G>A; -1235A>G; -1094_-1093insA; -740C>T; -695_-692delTGTG; 310G>T; 746C>G; 843T>G; 1661G>C; 1716G>A; 2575C>A; 2661G>A; 2850C>T; 3254T>C; 3384A>C; 3584G>A; 3790C>T; 4180G>C					E155K; R296C; S486T	Functional (normal or decreased)		Gaedigk et al., 2005a
CYP2D6*46	CYP2D6.46		-1543G>A; -1298G>A; -1235A>G; -740C>T; 77G>A; 310G>T; 746C>G; 843T>G; 1661G>C; 1716G>A; 2575C>A; 2661G>A; 2850C>T; 3030G>G/A*; 3254T>C; 3384A>C; 3491G>A; 3584G>A; 3790C>T; 4180G>C *Both haplotypes have been described (Gaedigk et al. 2005a)					R26H; E155K; R296C; S486T	Functional (normal or decreased)		Gaedigk et al., 2005a
CYP2D6*47	CYP2D6.47		-1426C>T; -1235A>G; -1000G>A; 73C<T; 100C>T; 1039C>T; 1661G>C; 4180G>C					R25W; P34S; S486T		Negligible (b, dx)	Soyama et al., 2004 Sakuyama et al., 2008
CYP2D6*48	CYP2D6.48		972C>T					A90V		Normal (b, dx)	Soyama et al., 2004 Sakuyama et al., 2008
CYP2D6*49	CYP2D6.49		-1426C>T; -1235A>G; -1000G>A; 100C>T; 1039C>T; 1611T>A; 1661G>C; 4180G>C					P34S; F120I; S486T		Decr. (b, dx)	Soyama et al., 2004 Matsunaga et al., 2009 Sakuyama et al., 2008
CYP2D6*50	CYP2D6.50		1720A>C					E156A		Decr (b, dx)	Soyama et al., 2004 Sakuyama et al., 2008
CYP2D6*51	CYP2D6.51		-1584C>G; -1235A>G;  -740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 3172A>C; 4180G>C					R296C; E334A; S486T		Negligible (b, dx)	Soyama et al., 2004 Sakuyama et al., 2008
CYP2D6*52	CYP2D6.52		-1426C>T; -1235A>G; -1000G>A; 100C>T; 1039C>T; 1661G>C; 3877G>A; 4180G>C; 4401C>T					P34S; E418K; S486T			Lee et al., 2009
CYP2D6*53	CYP2D6.53		1598A>G; 1611T>A; 1617G>T					F120I; A122S		Incr (b, dx)	Ebisawa et al., 2005 Sakuyama et al., 2008
CYP2D6*54	CYP2D6.54		100C>T; 1039C>T; 1661G>C; 2556C>T; 4180G>C					P34S; T261I; S486T		Decr (b, dx)	Ebisawa et al., 2005 Sakuyama et al., 2008
CYP2D6*55	CYP2D6.55		1661G>C; 2850C>T; 3790C>T; 3835A>C; 4180G>C					R296C; K404Q; S486T		Decr (b, dx)	Ebisawa et al., 2005 Sakuyama et al., 2008
CYP2D6*56A			-1584C>G; -1235A>G; -740C>T; -678G>A; CYP2D7 gene conversion in intron 1; 1661G>C; 2850C>T; 3201C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C					R296C; R344X		None	Li et al., 2006
CYP2D6*56B			-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 2097A>G; 3201C>T; 3384A>C; 3582A>G, 4180G>C					P34S; R344X			Gaedigk et al., 2007
CYP2D6*57 In tandem with CYP2D6*10	CYP2D6.57		100C>T; 310G>T; 843T>G; 887C>T; 1039C>T; 1661G>C; 3384A>C; 3582A>G; gene conversion to CYP2D7 in exon 9; 4180G>C					P34S; R62W; P469A; T470A; H478S; G479R; F481V; A482S; S486T		Negligible (b, dx)	Soyama et al., 2006 Sakuyama et al., 2008
CYP2D6*58	CYP2D6.58		-1426C>T; -1235A>G; -740C>T; CYP2D7 gene conversion in intron 1; 310G>T; 843T>G; 1023C>T; 1661G>C; 1863_1864insTTTCGCCCC; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C					T107I; 174_175insFRP; R296C; S486T			Koch et al., unpublished Gaedigk and Phillips, unpublished
CYP2D6*59	CYP2D6.2		1661G>C; 2291G>A; 2850C>T; 2939G>A; 4180G>C					R296C; S486T		Decr	Marez et al., 1997 Toscano et al., 2006
CYP2D6*60	CYP2D6.60		1887insTA; 2303C>T					S183X			Lee et al., 2009
CYP2D6*61	CYP2D6.61		3384A>C; CYP2D7 sequence from intron 7 onwards					P469A; T470A; H478S; G479R; F481V; A482S; S486T			Kramer et al., 2009
CYP2D6*62	CYP2D6.62		4044C>T					R441C		None	Klein et al., 2007
CYP2D6*63	CYP2D6.63		-1584C>G; -1235A>G; -740C>T; -678G>A; intron 1 conversion with CYP2D7 (214-245); 310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; CYP2D7 sequence from exon 8 onwards					R296C; P469A; T470A; H478S; G479R; F481V; A482S; S486T			Kramer et al., 2009
CYP2D6*64	CYP2D6.64		-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 843T>G; 1023C>T; 1661G>C; 2097A>G; 3384A>C; 3582A>G; 4180G>C; 4401C>T					P34S; T107I; S486T			Gaedigk et al., 2008a
CYP2D6*65	CYP2D6.65		100C>T; 310G>T; 843T>G; 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4180G>C; 4481G>A					P34S; R296C; S486T			Gaedigk et al., 2008a
CYP2D6*66			See CYP2D6*13 for details
CYP2D6*67			See CYP2D6*13 for details
CYP2D6*68A	CYP2D6.68		-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; CYP2D7 sequence from intron 1 onwards					P34S; CYP2D7 sequence from amino acid 61	None		Kramer et al., 2009
CYP2D6*68B	CYP2D6.68		Similar but not identical switch region compared to CYP2D6*68A Found in tandem arrangement with CYP2D6*4.					P34S; CYP2D7 sequence from amino acid 61	None		Gaedigk et al., 2011
CYP2D6*69			-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 746C>G; 843T>G; 1062A>G; 1661G>C; 2850C>T; 2988G>A; 3384A>C; 3584G>A; 3790C>T; 4180G>C; 4401C>T; 4481G>A					P34S; R296C; splicing defect; S486T	Decr.		Gaedigk et al., 2008b
CYP2D6*70	CYP2D6.70		-176G>A; 310G>T; 843T>G; 1608G>A; 1659G>A; 1661G>C; 3183G>A; 3384A>C; 4180G>C					V119M; V136I; V338M; S486T			Matimba et al., 2009
CYP2D6*71	CYP2D6.71		-1584C>G; 125G>A; 1494 T>C					G42E			Zhou et al., 2009
CYP2D6*72	CYP2D6.72		-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 2097A>G; 3318G>A; 3384A>C; 3582A>G; 4180G>C; 4401C>T					P34S; E383K; S486T		Decr.	Matsunaga et al., 2009
CYP2D6*73	CYP2D6.73		-740C>T, CYP2D7 gene conversion intron 1 (214-245), 310G>T, 746C>G, 843T>G, 1013G>A, 1661G>C, 2850C>T, 3384A>C, 3584G>A, 3790C>T, 4180G>C, 4535insT					V104M; R296C; S486T			Wright et al., 2010
CYP2D6*74	CYP2D6.74		974C>A, 3609G>T					L91M			Wright et al., 2010
CYP2D6*75	CYP2D6.75		4045G>A					R441H			Qin et al., 2008
CYP2D6*76			See CYP2D6*13 for details
CYP2D6*77			See CYP2D6*13 for details
CYP2D6*78			See CYP2D6*13 for details
CYP2D6*79			See CYP2D6*13 for details
CYP2D6*80			See CYP2D6*13 for details
CYP2D6*81	CYP2D6.81		2579C>T; 2606G>A; 2610T>A					R269X; E278K; M279K			Chua et al., 2013
CYP2D6*82	CYP2D6.82		CYP2D7 gene conversion in exon 2: 974C>A; 984A>G; 997C>G; 1014T>C; 1022A>T; 1023C>A; 1028A>G; 1036T>C					L91M; H94R; V104A; T107Y; I109V			Contreras et al., 2011
CYP2D6*83	CYP2D6.83		843T>G; gene conversion to CYP2D7 in exon 9; 4180G>C					P469A; T470A; H478S; G479R; F481V; A482S; S486T			Gaedigk et al., 2011
CYP2D6*84	CYP2D6.84		-1740C>T; -1235A>G; -740C>T; -678A>G; 18G>A; intron 1 conversion with CYP2D7 (214-245); 310G>T; 746C>G; 843T>G; 1661G>C; 2574C>A; 2850C>T; 3384A>C; 3491G>A; 3584G>A; 3790C>T; 4180G>C; 4481G>A					P267H; R296C; S486T			Dodgen et al., 2013
CYP2D6*85	CYP2D6.85		-1740C>T; -1298G>A; -1235A>G; -740C>T; 102A>G; 310G>T; 607G>A; 746C>G; 843T>G; 1513C>T; 1661G>C; 2308G>A; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4157T>G; 4180G>C					R296C; H478Q; S486T			Dodgen et al., 2013
CYP2D6*86	CYP2D6.86		2606G>A; 2610T>A					E278K; M279K			Dodgen et al., 2013
CYP2D6*87	CYP2D6.87		14C>T; 100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 4180G>C					A5V; P34S; S486T			Qian et al., 2013
CYP2D6*88	CYP2D6.88		746C>G; intron 1 conversion with CYP2D7(214-247); 843T>G; 1014T>C; 1661G>C; 3384A>C; 3584G>A; 3790C>T; 4180G>C					V104A; S486T			Qian et al., 2013
CYP2D6*89	CYP2D6.89		1678T>C					L142S			Qian et al., 2013
CYP2D6*90	CYP2D6.90		1693A>G					K147R			Qian et al., 2013
CYP2D6*91	CYP2D6.91		1735G>C; 2850C>T; 2988G>A					C161S; R296C; splicing defect			Qian et al., 2013
CYP2D6*92	CYP2D6.92		1995delC					218Frameshift	None		Qian et al., 2013
CYP2D6*93	CYP2D6.93		2519A>C					T249P			Qian et al., 2013
CYP2D6*94A	CYP2D6.94		100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 3181A>G; 4180G>C					P34S; D337G; S486T			Qian et al., 2013
CYP2D6*94B	CYP2D6.94		100C>T; 843T>G; 1039C>T; 1661G>C; 3181A>G; 3384A>C; 4180G>C					P34S; D337G; S486T			Qian et al., 2013
CYP2D6*95	CYP2D6.95		100C>T; 843T>G; 1039C>T; 1661G>C; 3334G>A; 3384A>C; 4180G>C					P34S; R388H; S486T			Qian et al., 2013
CYP2D6*96	CYP2D6.96		3895C>T					Q424X			Qian et al., 2013
CYP2D6*97	CYP2D6.97		4094C>A					F457L			Qian et al., 2013
CYP2D6*98	CYP2D6.98		746C>G; 843T>G intron 1 conversion with CYP2D7(214-247); 1661G>C; 2850C>T; 3384A>C; 3584G>A; 3790C>T; 4110C>G; 4180G>C					R296C; H463D; S486T			Qian et al., 2013
CYP2D6*99	CYP2D6.99		-1426C>T; -1235A>G; -1000G>A; 100C>T; 280G>A; 310G>T; 601insC; 843T>G; 966G>C; 1039 C>T; 1289GC>CG; 1328delG; 1439delC; 1661G>C; 2097A>G; 3384A>C; 3582A>G; 4180G>C; 4401C>T;					R296C; R88P; S486T			A Gaedigk, unpublished
CYP2D6*100			-1426C>T; -1235A>G; -1109C>T; -1000G>A; 100C>T; 310G>T; 843T>G; 1039C>T;1661G>C; 2097A>G; 2828delC; 3384A>C; 3582A>G; 4180G>C; 4401C>T					P34S; 288Frameshift	None		Montane-Jaime et al., 2013
CYP2D6*101			-1426C>T; -1235A>G; -1000G>A; 100C>T; 310G>T; 843T>G; 1039C>T; 1661G>C; 2097A>G; 2927_2945delGATCCTACATCCGGATGTG; 3384A>C; 3582A>G; 4180G>C; 4401C>T					P34S; 321Frameshift	None		Montane-Jaime et al., 2013
CYP2D6*102	CYP2D6.102		Intron 1 conversion with CYP2D7 (214-245); 310G>T; 972C>T; 1661G>C; 2850C>T; 3384A>C; 3790C>T; 4180G>C; 4481G>A					A90V; R296C; S486T			Qumsieh et al., 2011
CYP2D6*103	CYP2D6.103		Intron 1 conversion with CYP2D7 (214-245); 310G>T; 972C>T; 1661G>C; 1749A>G; 2850C>T; 3384A>C; 3790C>T; 4180G>C; 4481G>A					A90V; N166D; R296C; S486T			Qumsieh et al., 2011
CYP2D6*104	CYP2D6.104		Intron 1 conversion with CYP2D7 (214-245); 310G>T; 843T>G; 1661G>C; 1720A>T; 2850C>T; 3384A>C; 3790C>T; 4180G>C; 4481G>A					E156V; R296C; S486T			Qumsieh et al., 2011
CYP2D6*105	CYP2D6.105		Intron 1 conversion with CYP2D7 (214-245); 310G>T; 746C>G; 843T>G; 1661G>C; 2850C>T; 3268T>C; 3384A>C; 3790C>T; 4180G>C; 4481G>A					R296C; F366S; S486T			Qumsieh et al., 2011
CYP2D6*106			To be released
CYP2D6*107	CYP2D6.107		1659G>A		-225 to 4752			V136M			Qiao et al., 2015
CYP2D6*108	CYP2D6.108		3226A>G; 3235A>G		-225 to 4752			H352R; Y355C			Qiao et al., 2015
CYP2D6*109	CYP2D6.109		-960G>C; 2615_2617delAAG, 3183G>A		-225 to 4752			K281del; V338M			Qiao et al., 2015
CYP2D6*110	CYP2D6.110		4056>A					G445R
CYP2D6*111	CYP2D6.111		4180G>C; 3709C>T; 3582G>A; 3384A>C; 2850C>T; 1661G>C; 1034G>A; 843T>G; 746C>G; 310G>T; intron 1 conversion					S486T R296C V136(=) G111S
CYP2D6*112	CYP2D6.112		4186C>T					S488F
CYP2D6*113	CYP2D6.113		4039G>A					G439N
Additional SNPs, where the haplotype has not yet been determined
			-98C>T; -43insG; 1923C>T; 1998T>C; 2303C>T; 2663G>A; 2760T>A; 3408T>C; 3435C>A; 4172C>T								Solus et al., 2004
			4155C>T					H478Y			Solus et al., 2004
			CYP2D7 gene conversion in intron 4 (2050-2392)								Tandon et al., manuscript in prep.
			2466T>C					L231P			Tandon et al., manuscript in prep.
			2606G>A*			*Part of novel CYP2D7 gene conversion in exon 5 (2470-2610) that includes 2470T>C and 2575C>A		E278K			Tandon et al., manuscript in prep.
			2610T>A*					M279			Tandon et al., manuscript in prep.
			1621 G>T					R123L			Matimba et al., 2009
			4057 G>A					G445E			Matimba et al., 2009
			2452T>C								Wright et al., 2010
			4069C>A Predicted on a *4 background					A449D			Contreras et al., 2011
			3160G>C					R330P			Contreras et al., 2011
			4083T>G					F454V			Fuselli et al., 2010
			4176G>C					V485L			Fuselli et al., 2010
			3180G>A					D337N			Fuselli et al., 2010
			4174T>G					L484R			Fuselli et al., 2010
			2818A>G					N285S			Fuselli et al., 2010
			74G>A					R25Q			Qian et al., 2013
			1745C>G					F164L			Qian et al., 2013
			1984G>A					E215K			Qian et al., 2013
			1997T>C					F219S			Qian et al., 2013
			2943G>A					V327M			Qian et al., 2013
			3177G>A					D336N			Qian et al., 2013
			3195G>A					V342M			Qian et al., 2013
			3202G>A					R344Q			Qian et al., 2013
			4041C>T					R440C			Qian et al., 2013
			4212C>T					R497C			Qian et al., 2013

b, bufuralol; d, debrisoquine; dx, dextromethorphan; s, sparteine

aVariable number of A’s in the region -1258 to -1237 has been reported for this allele and this variation can be represented by insertions or deletions as compared to the reference sequence. See respective paper for details.

Changes made since the last update (18-Nov-2015) are marked in red.

Allele frequencies: Xie et al., 2001; Bradford, 2002; Mizutani, 2003; Solus et al., 2004, Raimundo et al., 2004;
Sistonen et al., 2007; Gaedigk et al., PharmGKB CYP2D6 Allelic Variation Summary Table and Legend

Links to the NCBI dbSNP homepage are available for functional SNPs when present in NCBI's database.

Nucleotide variations in bold are the major SNPs/alterations responsible for the phenotype of the corresponding allele.

Due to the dominant effect of a CYP2D6 gene conversion to CYP2D7 in exon 1, which results in a nucleotide insertion and frameshift of the open reading frame, all CYP2D6 alleles containing this conversion have been consolidated under a single allele designation, i.e. CYP2D6*13, which is the allele number that was assigned to the first CYP2D7 exon 1-containing allele.

See Sim et al., 2012 for more information.

Note: The -1584C>G; -1235A>G; -740C>T and -678G>A polymorphisms are probably found in most alleles of the CYP2D6*2 series Raimundo et al, 2000


The CYP2D7 gene conversion in intron 1 is probably also found in most alleles of the CYP2D6*2 series 
(Johansson et al, 1993; Raimundo et al, 2000).  

OMIM GeneCards

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This page was updated 19-Jan-2016 by Sarah C Sim
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