[Table, Nomenclature of Selected CYP2D6 Alleles]. - Medical Genetics Summaries - NCBI Bookshelf

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Common allele name	Alternative names	HGVS reference sequence		dbSNP reference identifier for allele location
Common allele name	Alternative names	Coding	Protein	dbSNP reference identifier for allele location
CYP2D6*2	2851C>T	NM_000106.6:c.457G>C	NP_000097.3:p.Arg296Cys	rs16947
CYP2D6*2	4181G>C	NM_000106.6:c.1457G>C	NP_000097.3:p.Ser486Thr	rs1135840
CYP2D6*3	2550delA	NM_000106.6:c.775del	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	Gene deletion
CYP2D6*6	1707 del T	NM_000106.6:c.454delT	NP_000097.3:p.Trp152Glyfs	rs5030655
CYP2D6*10	100C>T	NM_000106.6:c.100C>T	NP_000097.3:p.Pro34Ser	rs1065852
CYP2D6*10	4181G>C	NM_000106.6:c.1457G>C	NP_000097.3:p.Ser486Thr	rs1135840
CYP2D6*17	1022C>T	NM_000106.6:c.320C>T	NP_000097.3:p.Thr107Ile	rs28371706
	2851C>T	NM_000106.6:c.886T>C	NP_000097.3:p.Cys296Arg	rs16947
	4181G>C	NM_000106.6:c.1457G>C	NP_000097.3:p.Ser486Thr	rs1135840
CYP2D6*27	3854G>A	NM_000106.6:c.1228G>A	NP_000097.3:p.Glu410Lys	rs769157652
CYP2D6*31	2851C>T	NM_000106.6:c.886C>T	NP_000097.3:p.Arg296Cys	rs16947
	4043G>A	NM_000106.6:c.1319G>A	NP_000097.3:p.Arg440His	rs267608319
	4181G>C	NM_000106.6:c.1457G>C	NP_000097.3:p.Ser486Thr	rs1135840
CYP2D6*36^[1]	100C>T	NM_000106.6:c.100C>T	NP_000097.3:p.Pro34Ser	rs1065852
	4129C>G	NM_000106.6:c.1405C>G	NP_000097.3:p.Pro469Ala	rs1135833
	4132A>G	NM_000106.6:c.1408A>G	NP_000097.3:p.Thr470Ala	rs1135835
	4156C>T+4157A>C	NM_000106.6:c.1432C>T+ NM_000106.6:c.1433A>C	NP_000097.3:p.His47Ser	rs28371735+ rs766507177
	4159G>C	NM_000106.6:c.1435G>C	NP_00097.3:p.Gly479Arg
	4165T>G	NM_000106.6:c.1441T>G	NP_00097.3:p.Phe481Val
	4168G>A+4169C>G	NM_000106.6:c.1444G>A+ NM_000106.6:c.1445C>G	NP_000097.3:p.Ala482Ser	rs74478221+ rs75467367
	4181G>C	NM_000106.6:c.1457G>C	NP_000097.3:p.Ser486Thr	rs1135840
CYP2D6*41	2851C>T	NM_000106.6:c.886T>C	NP_000097.3:p.Cys296Arg	rs16947
	2989G>A	NM_000106.6:c.985+39G>A	Variant occurs in a non-coding region (impacts slicing).	rs28371725
	4181G>C	NM_000106.6:c.1457G>C	NP_000097.3:p.Ser486Thr	rs1135840
CYP2D6*49	100C>T	NM_000106.6:c.100C>T	NP_000097.3:p.Pro34Ser	rs1065852
	1612T>A	NM_00106.6:c.358T>A	NP_000097.3:p.Phe120Ile	rs1135822
	4181G>	NM_000106.6:c.1457G>C	NP_000097.3:p.Ser486Thr	rs1135840

^[1]: 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.
: Nomenclature for Cytochrome P450 enzymes is available from PharmVar (28).

From: Metoprolol Therapy and CYP2D6 Genotype

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

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