Canonical Allele Identifier: CA1929375415
Gene: CYP2C8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95037256_95037257delinsGA , CM000672.2:g.95037256_95037257delinsGA GRCh38
NC_000010.10:g.96797013_96797014delinsGA , CM000672.1:g.96797013_96797014delinsGA GRCh37
NC_000010.9:g.96787003_96787004delinsGA NCBI36
NG_007972.1:g.37241_37242delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000371270.6:c.1344_1345delinsTC MANE Select ENSP00000360317.3:p.Phe448=
ENST00000371270.5:c.1344_1345delinsTC ENSP00000360317.3:p.Phe448=
ENST00000490994.6:c.*1130_*1131delinsTC ENSP00000433314.1:n.*1130_*1131delinsTC
ENST00000525991.5:c.*919_*920delinsTC ENSP00000433842.1:n.*919_*920delinsTC
ENST00000526814.5:n.1599_1600delinsTC
ENST00000527420.5:c.*201_*202delinsTC ENSP00000433191.1:n.*201_*202delinsTC
ENST00000527953.5:n.1638_1639delinsTC
ENST00000531714.1:n.532_533delinsTC
ENST00000533320.5:n.1578_1579delinsTC
ENST00000535898.5:c.1038_1039delinsTC ENSP00000445062.1:p.Phe346=
ENST00000539050.5:c.1134_1135delinsTC ENSP00000442343.2:p.Phe378=
ENST00000623108.3:c.1134_1135delinsTC ENSP00000485110.1:p.Phe378=
NM_000770.3:c.1344_1345delinsTC MANE Select NP_000761.3:p.Phe448=
NM_001198853.1:c.1134_1135delinsTC NP_001185782.1:p.Phe378=
NM_001198854.1:c.1038_1039delinsTC NP_001185783.1:p.Phe346=
NM_001198855.1:c.1134_1135delinsTC NP_001185784.1:p.Phe378=
XR_945610.1:n.1479_1480delinsTC