Canonical Allele Identifier: CA5617488

Gene: CYP2C8

Linked Data

• dbSNP Id: rs372999683
• ExAC: 10:96797045 T / C
• gnomAD v2: 10-96797045-T-C
• gnomAD v3: 10-95037288-T-C
• gnomAD v4: 10-95037288-T-C
• MyVariant Identifiers: chr10:g.96797045T>C (hg19) ; chr10:g.96797045_96797048delinsCCTC (hg19) ; chr10:g.95037288T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037288T>C , CM000672.2:g.95037288T>C	GRCh38
NC_000010.10:g.96797045T>C , CM000672.1:g.96797045T>C	GRCh37
NC_000010.9:g.96787035T>C	NCBI36
NG_007972.1:g.37210A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1313A>G MANE Select	ENSP00000360317.3:p.Glu438Gly
ENST00000371270.5:c.1313A>G	ENSP00000360317.3:p.Glu438Gly
ENST00000490994.6:c.*1099A>G	ENSP00000433314.1:n.*1099A>G
ENST00000525991.5:c.*888A>G	ENSP00000433842.1:n.*888A>G
ENST00000526814.5:n.1568A>G
ENST00000527420.5:c.*170A>G	ENSP00000433191.1:n.*170A>G
ENST00000527953.5:n.1607A>G
ENST00000531714.1:n.501A>G
ENST00000533320.5:n.1547A>G
ENST00000535898.5:c.1007A>G	ENSP00000445062.1:p.Glu336Gly
ENST00000539050.5:c.1103A>G	ENSP00000442343.2:p.Glu368Gly
ENST00000623108.3:c.1103A>G	ENSP00000485110.1:p.Glu368Gly
NM_000770.3:c.1313A>G MANE Select	NP_000761.3:p.Glu438Gly
NM_001198853.1:c.1103A>G	NP_001185782.1:p.Glu368Gly
NM_001198854.1:c.1007A>G	NP_001185783.1:p.Glu336Gly
NM_001198855.1:c.1103A>G	NP_001185784.1:p.Glu368Gly
XR_945610.1:n.1448A>G