Nomenclature for Selected CYP2D6 Alleles

Common allele nameAlternative names / major SNPHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2D6*4 1846G>A NM_000106​.5:c.506-1G>A Not applicable - variant occurs in a non-coding region rs3892097
CYP2D6*5 Not applicable - variant results in a whole gene deletion
CYP2D6*6 1707 del T Trp152Gly NM_000106​.5:c.454delT NP_000097​.3:p.Trp152Glyfs rs5030655
CYP2D6*10 100C>T Pro34Ser NM_000106​.5:c.100C>T NP_000097​.3:p.Pro34Ser rs1065852
CYP2D6*17 Includes at least two functional variants*:
1023C>T (Thr107Ile)
2850C>T (Cys296Arg)		NM_000106.5:c.320C>T
NM_000106​.5:c.886T>C		NP_000097.3:p.Thr107Ile
NP_000097​.3:p.Cys296Arg		 rs28371706
rs16947
CYP2D6*41 2988G>ANM_000106.5:c.985+39G>ANot applicable – variant occurs in a non-coding region rs28371725

SNP= Single Nucleotide Polymorphism
Note: In the literature, 1023C>T is also referred to as 1111C>T, and 2850C>T is also referred to 2938C>T.
Note: The variant 1846G>A often occurs with both 4180G>C and 100C>T; and the variant 988G>A occurs with 2850C>T (Cys296Arg).

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (39).

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 Pharmacogene Variation (PharmVar) Consortium.

From: Deutetrabenazine Therapy and CYP2D6 Genotype

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