Canonical Allele Identifier: CA5617465

Gene: CYP2C8

Linked Data

• dbSNP Id: rs780198250
• ExAC: 10:96796941 T / C
• gnomAD v2: 10-96796941-T-C
• MyVariant Identifiers: chr10:g.96796941T>C (hg19) ; chr10:g.95037184T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037184T>C , CM000672.2:g.95037184T>C	GRCh38
NC_000010.10:g.96796941T>C , CM000672.1:g.96796941T>C	GRCh37
NC_000010.9:g.96786931T>C	NCBI36
NG_007972.1:g.37314A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1417A>G MANE Select	ENSP00000360317.3:p.Thr473Ala
ENST00000371270.5:c.1417A>G	ENSP00000360317.3:p.Thr473Ala
ENST00000490994.6:c.*1203A>G	ENSP00000433314.1:n.*1203A>G
ENST00000525991.5:c.*992A>G	ENSP00000433842.1:n.*992A>G
ENST00000526814.5:n.1672A>G
ENST00000527420.5:c.*274A>G	ENSP00000433191.1:n.*274A>G
ENST00000527953.5:n.1711A>G
ENST00000531714.1:n.605A>G
ENST00000533320.5:n.1651A>G
ENST00000535898.5:c.1111A>G	ENSP00000445062.1:p.Thr371Ala
ENST00000539050.5:c.1207A>G	ENSP00000442343.2:p.Thr403Ala
ENST00000623108.3:c.1207A>G	ENSP00000485110.1:p.Thr403Ala
NM_000770.3:c.1417A>G MANE Select	NP_000761.3:p.Thr473Ala
NM_001198853.1:c.1207A>G	NP_001185782.1:p.Thr403Ala
NM_001198854.1:c.1111A>G	NP_001185783.1:p.Thr371Ala
NM_001198855.1:c.1207A>G	NP_001185784.1:p.Thr403Ala
XR_945610.1:n.1552A>G