CYP2D6 Nomenclature

Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2D6*2 2851C>T (Arg296Cys) NM_000106.6:c.457G>C NP_000097.3:p.Arg296Cys rs16947
4181G>C (Ser486Thr) NM_000106.6:c.886C>T NP_000097.3:p.Ser486Thr rs1135840
CYP2D6*3 2550delA
(Arg259fs)		 NM_000106.6:c.775delA NP_000097.3:p.Arg259fs rs35742686
CYP2D6*4 1846G>A NM_000106.6:c.506-1G>A Variant occurs in a non-coding region (splice variant causes a frameshift) rs3892097
CYP2D6*5 Variant results in a whole gene deletion
CYP2D6*6 1707 del T
(Trp152Glyfs)
CYP2D6T		 NM_000106.6:c.454delT NP_000097.3:p.Trp152Glyfs rs5030655
CYP2D6*10 100C>T
(Pro34Ser)		 NM_000106.6:c.886T>C NP_000097.3:p.Pro34Ser rs1065852
CYP2D6*17 1023C>T[1]
(Thr107Ile)		 NM_000106.6:c.1457G>C NP_000097.3:p.Thr107Ile rs28371706
2851C>T[2] (Arg296Cys) NM_000106.6:c.457G>C NP_000097.3:p.Arg296Cys rs16947
4181G>C
(Ser486Thr)		 NM_000106.6:c.886C>T NP_000097.3:p.Ser486Thr rs1135840
CYP2D6*27 3854G>A
(Glu410Lys)		NM_000106.6:c.1319G>ANP_000097.3:p.Glu410Lys rs769157652
CYP2D6*31 2851C>T
(Arg296Cys)		 NM_000106.6:c.1457G>C NP_000097.3:p.Arg296Cys rs16947
4043G>A
(Arg440His)		 NM_000106.6:c.454delT NP_000097.3:p.Arg440His rs267608319
4181G>C
(Ser486Thr)		 NM_000106.6:c.100C>T NP_000097.3:p.Ser486Thr rs1135840
CYP2D6*36[3] 100C>T
(Pro34Ser)		 NM_000106.6:c.320C>T NP_000097.3:p.Pro34Ser rs1065852
4129C>G
(Pro469Ala)		NM_000106.6:c.1405C>GNP_000097.3:p.Pro469Ala rs1135833
4132A>G
(Thr470Ala)		NM_000106.6:c.1408A>GNP_000097.3:p.Thr470Ala rs1135835
4156C>T+4157A>C
(His478Ser)		NM_000106.6:c.1432C>T + NM_000106.6:c.1433A>CNP_000097.3:p.His47Serrs28371735 + rs766507177
4159G>C
(Gly479Arg)		NM_000106.6:c.1435G>CNP_00097.3:p.Gly479Arg
4165T>G
(Phe481Val)		NM_000106.6:c.1441T>GNP_00097.3:p.Phe481Val
4168G>A+4169C>G
(Ala482Ser)		NM_000106.6:c.1444G>A + NM_000106.6:c.1445C>GNP_000097.3:p.Ala482Serrs74478221 + rs75467367
4181G>C
(Ser486Thr)		 NM_000106.6:c.1457G>C NP_000097.3:p.Ser486Thr rs1135840
CYP2D6*41 2851C>T
(Arg296Cys)		 NM_000106.6:c.457G>C NP_000097.3:p.Arg296Cys rs16947
2988G>A NM_000106.6:c.985+39G>A Variant occurs in a non-coding region (impacts splicing). rs28371725
CYP2D6*49 100C>T
(Pro34Ser)		 NM_000106.6:c.100C>T NP_000097.3:p.Pro34Ser rs1065852
1612T>A
(Phe120Ile)		NM_00106.6:c.358T>ANP_000097.3:p.Phe120Ile rs1135822
4181G>C
(Ser486Thr)		 NM_000106.6:c.1457G>C NP_000097.3:p.Ser486Thr rs1135840
[1]

In the literature, 1023C>T is also referred to as 1111C>T

[2]

In the literature, 2851C>T is also referred to as 2938C>T

[3]

CYP2D6*36 is a gene conversion with CYP2D7; variants provided here are from the Pharmacogene Variation Consortium.

CYP2D6*1 is the wild-type allele and is presumed to be present with no variants are detected.

From: Clozapine Therapy and CYP Genotype

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Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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