Canonical Allele Identifier: CA5617490

Gene: CYP2C8

Linked Data

• dbSNP Id: rs755161565
• ExAC: 10:96797052 C / T
• gnomAD v2: 10-96797052-C-T
• gnomAD v4: 10-95037295-C-T
• MyVariant Identifiers: chr10:g.96797052C>T (hg19) ; chr10:g.95037295C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037295C>T , CM000672.2:g.95037295C>T	GRCh38
NC_000010.10:g.96797052C>T , CM000672.1:g.96797052C>T	GRCh37
NC_000010.9:g.96787042C>T	NCBI36
NG_007972.1:g.37203G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1306G>A MANE Select	ENSP00000360317.3:p.Ala436Thr
ENST00000371270.5:c.1306G>A	ENSP00000360317.3:p.Ala436Thr
ENST00000490994.6:c.*1092G>A	ENSP00000433314.1:n.*1092G>A
ENST00000525991.5:c.*881G>A	ENSP00000433842.1:n.*881G>A
ENST00000526814.5:n.1561G>A
ENST00000527420.5:c.*163G>A	ENSP00000433191.1:n.*163G>A
ENST00000527953.5:n.1600G>A
ENST00000531714.1:n.494G>A
ENST00000533320.5:n.1540G>A
ENST00000535898.5:c.1000G>A	ENSP00000445062.1:p.Ala334Thr
ENST00000539050.5:c.1096G>A	ENSP00000442343.2:p.Ala366Thr
ENST00000623108.3:c.1096G>A	ENSP00000485110.1:p.Ala366Thr
NM_000770.3:c.1306G>A MANE Select	NP_000761.3:p.Ala436Thr
NM_001198853.1:c.1096G>A	NP_001185782.1:p.Ala366Thr
NM_001198854.1:c.1000G>A	NP_001185783.1:p.Ala334Thr
NM_001198855.1:c.1096G>A	NP_001185784.1:p.Ala366Thr
XR_945610.1:n.1441G>A