Canonical Allele Identifier: CA5617468

Gene: CYP2C8

Linked Data

• dbSNP Id: rs753802612
• ExAC: 10:96796952 G / T
• gnomAD v2: 10-96796952-G-T
• gnomAD v3: 10-95037195-G-T
• gnomAD v4: 10-95037195-G-T
• MyVariant Identifiers: chr10:g.96796952G>T (hg19) ; chr10:g.95037195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037195G>T , CM000672.2:g.95037195G>T	GRCh38
NC_000010.10:g.96796952G>T , CM000672.1:g.96796952G>T	GRCh37
NC_000010.9:g.96786942G>T	NCBI36
NG_007972.1:g.37303C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1406C>A MANE Select	ENSP00000360317.3:p.Thr469Asn
ENST00000371270.5:c.1406C>A	ENSP00000360317.3:p.Thr469Asn
ENST00000490994.6:c.*1192C>A	ENSP00000433314.1:n.*1192C>A
ENST00000525991.5:c.*981C>A	ENSP00000433842.1:n.*981C>A
ENST00000526814.5:n.1661C>A
ENST00000527420.5:c.*263C>A	ENSP00000433191.1:n.*263C>A
ENST00000527953.5:n.1700C>A
ENST00000531714.1:n.594C>A
ENST00000533320.5:n.1640C>A
ENST00000535898.5:c.1100C>A	ENSP00000445062.1:p.Thr367Asn
ENST00000539050.5:c.1196C>A	ENSP00000442343.2:p.Thr399Asn
ENST00000623108.3:c.1196C>A	ENSP00000485110.1:p.Thr399Asn
NM_000770.3:c.1406C>A MANE Select	NP_000761.3:p.Thr469Asn
NM_001198853.1:c.1196C>A	NP_001185782.1:p.Thr399Asn
NM_001198854.1:c.1100C>A	NP_001185783.1:p.Thr367Asn
NM_001198855.1:c.1196C>A	NP_001185784.1:p.Thr399Asn
XR_945610.1:n.1541C>A