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>TNG_008384.3:g.4220C>T
(NM_000769.2:c.-806C>T)a		Not applicable—variant occurs in a non-coding region rs12248560
a

The CYP2C19*17 allele has increased expression due to an upstream, non-coding variant. The legacy HGVS expression for the change relative to the coding sequence is provided, but the correct RefSeq genomic sequence is provided as well.

Guidelines for the description and nomenclature of gene variations are available from the Human Genome Variation Society (HGVS): http://www​.hgvs.org/content/guidelines

Nomenclature for Cytochrome P450 enzymes is available from the PharmVar database (9) https://www​.pharmvar.org/

From: Carisoprodol Therapy and CYP2C19 Genotype

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Medical Genetics Summaries [Internet].
Pratt VM, Scott SA, Pirmohamed M, et al., editors.
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