Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2C19*2 681G>A
Pro227Pro		 NM_000769​.4:c.681G>A NP_000760​.1:p.Pro227= rs4244285
CYP2C19*3 636G>A
Trp212Ter		 NM_000769​.4:c.636G>A NP_000760​.1:p.Trp212Ter rs4986893
CYP2C19*4 1A>G
Met1Val		 NM_000769​.4:c.1A>G NP_000760​.1:p.Met1Val rs28399504
CYP2C19*5 90033C>T Arg433Trp NM_000769​.4:c.1297C>T NP_000760​.1:p.Arg433Trp rs56337013
CYP2C19*6 12748G>A
Arg132Gln		 NM_000769​.4:c.395G>A NP_000760​.1:p.Arg132Gln rs72552267
CYP2C19*7 19294T>A NM_000769​.4:c.819+2T>A (Splice donor variant) rs72558186
CYP2C19*8 12711T>C
Trp120Arg		NM_000769.4:c.358T>CNP_000760.1:p.Trp120Arg rs41291556
CYP2C19*9 12784G>A
Arg144His		 NM_000769​.4:c.431G>A NP_000760​.1:p.Arg144His rs17884712
CYP2C19*17 -806C>T NM_000769​.4:c.-806C>T Not applicable - variant occurs in a non-coding region rs12248560

Note: when no variants are detected the genotype is designated as CYP2C19*1 and is considered the normal “wild-type” allele.

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (49).

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 the Pharmacogene Variation (PharmVar) Consortium.

From: Omeprazole 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.