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>TNM_000769.1:c.-806C>TNot 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 (40).

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) (41).

From: Voriconazole Therapy and CYP2C19 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.