Nomenclature of Selected CYP2D6 Alleles

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
CYP2D6*3 4181G>C (Ser486Thr) NM_000106​.6:c.886C>T NP_000097​.3:p.Ser486Thr rs1135840
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 Gene deletion
CYP2D6*6 1707 del T
Trp152Gly
CYP2D6T		 NM_000106​.6:c.454delT NP_000097​.3:p.Trp152Glyfs rs5030655
CYP2D6*10 100C>T (Pro34Ser) NM_000106​.6:c.100C>T NP_000097​.3:p.Pro34Ser rs1065852
CYP2D6*17 1023C>T[1] (Thr107Ile) NM_000106​.6:c.320C>T NP_000097​.3:p.Thr107Ile rs28371706
2851C>T[2] (Cys296Arg) NM_000106​.6:c.886T>C NP_000097​.3:p.Cys296Arg rs16947
4181G>C (Ser486Thr) NM_000106​.6:c.1457G>C NP_000097​.3:p.Ser486Thr rs1135840
CYP2D6*27 3854G>A (Glu410Lys)NM_000106.6:c.1228G>ANP_000097.3:p.Glu410Lys rs769157652
CYP2D6*31 2851C>T (Arg296Cys) NM_000106​.6:c.886C>T NP_000097​.3:p.Arg296Cys rs16947
4043G>A (Arg440His) NM_000106​.6:c.1319G>A NP_000097​.3:p.Arg440His rs267608319
4181G>C (Ser486Thr) NM_000106​.6:c.1457G>C NP_000097​.3:p.Ser486Thr rs1135840
CYP2D6*36[3] 100C>T (Pro34Ser) NM_000106​.6:c.100C>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[2]
(Cys296Arg)		 NM_000106​.6:c.886T>C NP_000097​.3:p.Cys296Arg rs16947
2988G>A NM_000106​.6:c.985+39G>A Variant occurs in a non-coding region (impacts slicing). 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.

Alleles described in this table are selected based on discussion in the text above. This is not intended to be an exhaustive description of known alleles.

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (71).

Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS).

Nomenclature for Cytochrome P450 enzymes is available from the Pharmacogene Variation (PharmVar) Consortium.

From: Tramadol Therapy and CYP2D6 Genotype

Cover of Medical Genetics Summaries
Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
Copyright Notice

All Medical Genetics Summaries content, except where otherwise noted, is licensed under a Creative Commons Attribution 4.0 International (CC BY 4.0) license which permits copying, distribution, and adaptation of the work, provided the original work is properly cited and any changes from the original work are properly indicated. Any altered, transformed, or adapted form of the work may only be distributed under the same or similar license to this one.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.