Canonical Allele Identifier: CA5617475

Gene: CYP2C8

Linked Data

• dbSNP Id: rs772732311
• ExAC: 10:96796996 C / G
• gnomAD v2: 10-96796996-C-G
• gnomAD v3: 10-95037239-C-G
• gnomAD v4: 10-95037239-C-G
• MyVariant Identifiers: chr10:g.96796996C>G (hg19) ; chr10:g.95037239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037239C>G , CM000672.2:g.95037239C>G	GRCh38
NC_000010.10:g.96796996C>G , CM000672.1:g.96796996C>G	GRCh37
NC_000010.9:g.96786986C>G	NCBI36
NG_007972.1:g.37259G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1362G>C MANE Select	ENSP00000360317.3:p.Gln454His
ENST00000371270.5:c.1362G>C	ENSP00000360317.3:p.Gln454His
ENST00000490994.6:c.*1148G>C	ENSP00000433314.1:n.*1148G>C
ENST00000525991.5:c.*937G>C	ENSP00000433842.1:n.*937G>C
ENST00000526814.5:n.1617G>C
ENST00000527420.5:c.*219G>C	ENSP00000433191.1:n.*219G>C
ENST00000527953.5:n.1656G>C
ENST00000531714.1:n.550G>C
ENST00000533320.5:n.1596G>C
ENST00000535898.5:c.1056G>C	ENSP00000445062.1:p.Gln352His
ENST00000539050.5:c.1152G>C	ENSP00000442343.2:p.Gln384His
ENST00000623108.3:c.1152G>C	ENSP00000485110.1:p.Gln384His
NM_000770.3:c.1362G>C MANE Select	NP_000761.3:p.Gln454His
NM_001198853.1:c.1152G>C	NP_001185782.1:p.Gln384His
NM_001198854.1:c.1056G>C	NP_001185783.1:p.Gln352His
NM_001198855.1:c.1152G>C	NP_001185784.1:p.Gln384His
XR_945610.1:n.1497G>C