Canonical Allele Identifier: CA377677249
Gene: CYP2C8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95037139T>G , CM000672.2:g.95037139T>G GRCh38
NC_000010.10:g.96796896T>G , CM000672.1:g.96796896T>G GRCh37
NC_000010.9:g.96786886T>G NCBI36
NG_007972.1:g.37359A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371270.6:c.1462A>C MANE Select ENSP00000360317.3:p.Ile488Leu
ENST00000371270.5:c.1462A>C ENSP00000360317.3:p.Ile488Leu
ENST00000490994.6:c.*1248A>C ENSP00000433314.1:n.*1248A>C
ENST00000525991.5:c.*1037A>C ENSP00000433842.1:n.*1037A>C
ENST00000526814.5:n.1717A>C
ENST00000527420.5:c.*319A>C ENSP00000433191.1:n.*319A>C
ENST00000527953.5:n.1756A>C
ENST00000533320.5:n.1696A>C
ENST00000535898.5:c.1156A>C ENSP00000445062.1:p.Ile386Leu
ENST00000539050.5:c.1252A>C ENSP00000442343.2:p.Ile418Leu
ENST00000623108.3:c.1252A>C ENSP00000485110.1:p.Ile418Leu
NM_000770.3:c.1462A>C MANE Select NP_000761.3:p.Ile488Leu
NM_001198853.1:c.1252A>C NP_001185782.1:p.Ile418Leu
NM_001198854.1:c.1156A>C NP_001185783.1:p.Ile386Leu
NM_001198855.1:c.1252A>C NP_001185784.1:p.Ile418Leu