Nomenclature of selected CYP2D6 alleles

Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2D6*4 1846G>A NM_000106.5: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 Trp152Gly

• CYP2D6T

 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 1023C>T[1] (Thr107Ile)NM_000106.5:c.320C>TNP_000097.3:p.Thr107Ile rs28371706
2850C>T[2] (Cys296Arg) NM_000106.5:c.886T>C NP_000097.3:p.Cys296Arg rs16947
CYP2D6*41 2850C>T[2]

(Cys296Arg)

 NM_000106.5:c.886T>C NP_000097.3:p.Cys296Arg rs16947
2988G>ANM_000106.5:c.985+39G>AVariant occurs in a non-coding region (impacts slicing). rs28371725
[1]

In the literature, 1023C>T is also referred to as 1111C>T, and 2850C>T is also referred to 2938C>T.

[2]

In the literature, 2850C>T is also referred to as 2938C>T.

From: Thioridazine Therapy and CYP2D6 Genotypes

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