Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2C19*2 681G>A
Pro227Pro
NM_000769​.1:c.681G>A NP_000760​.1:p.Pro227= rs4244285
CYP2C19*3 636G>A
Trp212Ter
NM_000769​.1:c.636G>A NP_000760​.1:p.Trp212Ter rs4986893
CYP2C19*17 -806C>T NM_000769​.1:c.-806C>T Not applicable - variant occurs in a non-coding region rs12248560

dbSNP: The Single Nucleotide Polymorphism Database

Note: the normal “wild-type” allele is CYP2C19*1.

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (16).

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.

Please note that the CYP2C19*2 defining variant (rs4244285) has recently been reported to be in high linkage disequilibrium with an intronic variant implicated in aberrant slicing (rs12769205) (17).

From: Diazepam Therapy and CYP2C19 Genotype

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