Common allele nameAlternative namesHGVS reference sequencedbSNP reference identifier for allele location
CodingProtein
CYP2C9*2 430C>T
Arg144Cys		 NM_000771​.4:c.430C>T NP_000762​.2:p.Arg144Cys rs1799853
CYP2C9*3 1075A>C
Ile359Leu		 NM_000771​.4:c.1075A>C NP_000762​.2:p.Ile359Leu rs1057910
CYP2C9*5 1080C>G
Asp360Glu		 NM_000771​.4:c.1080C>G NP_000762​.2:p.Asp360Glu rs28371686
CYP2C9*6 817delA
Lys273Argfs		 NM_000771​.4:c.817delA NP_000762​.2:p.Lys273Argfs rs9332131
CYP2C9*7 55C>A
Leu19Ile		NM_000771.4:c.55C>ANP_000762.2:p.Leu19Ile rs67807361
CYP2C9*8 449G>A
Arg150His		 NM_000771​.4:c.449G>A NP_000762​.2:p.Arg150His rs7900194
CYP2C9*10 10598A>G
Glu272Gly		NM_000771.4:c.815A>GNP_000762.2:p.Glu272Gly rs9332130
CYP2C9*11 1003C>T
Arg335Trp		NM_000771.4:c.1003C>TNP_000762.2:p.Arg335Trp rs28371685
CYP2C9*13 3276T>C
Leu90Pro		NM_000771.4:c.269T>CNP_000762.2:p.Leu90Pro rs72558187
CYP2C9*14 3552G>A
Arg125His		NM_000771.4:c.374G>ANP_000762.2:p.Arg125His rs72558189
CYP2C9*58 1009C>A
Pro337Thr		NM_000771.4:c.1009C>ANP_000762.2:p.Pro337Thr rs1274535931

Note: the normal “wild type” allele is CYP2C9*1 and is reported when no variant is detected.

Pharmacogenetic Allele Nomenclature: International Workgroup Recommendations for Test Result Reporting (34).

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.

From: Dronabinol Therapy and CYP2C9 Genotype

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