Canonical Allele Identifier: CA5617466

Gene: CYP2C8

Linked Data

• dbSNP Id: rs61757318
• ExAC: 10:96796944 CT / C
• gnomAD v2: 10-96796944-CT-C
• gnomAD v4: 10-95037187-CT-C
• MyVariant Identifiers: chr10:g.96796945del (hg19) ; chr10:g.95037188del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037188del , CM000672.2:g.95037188del	GRCh38
NC_000010.10:g.96796945del , CM000672.1:g.96796945del	GRCh37
NC_000010.9:g.96786935del	NCBI36
NG_007972.1:g.37310del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1413del MANE Select	ENSP00000360317.3:p.Val472LeufsTer23
ENST00000371270.5:c.1413del	ENSP00000360317.3:p.Val472LeufsTer23
ENST00000490994.6:c.*1199del	ENSP00000433314.1:n.*1199del
ENST00000525991.5:c.*988del	ENSP00000433842.1:n.*988del
ENST00000526814.5:n.1668del
ENST00000527420.5:c.*270del	ENSP00000433191.1:n.*270del
ENST00000527953.5:n.1707del
ENST00000531714.1:n.601del
ENST00000533320.5:n.1647del
ENST00000535898.5:c.1107del	ENSP00000445062.1:p.Val370LeufsTer23
ENST00000539050.5:c.1203del	ENSP00000442343.2:p.Val402LeufsTer23
ENST00000623108.3:c.1203del	ENSP00000485110.1:p.Val402LeufsTer23
NM_000770.3:c.1413del MANE Select	NP_000761.3:p.Val472LeufsTer23
NM_001198853.1:c.1203del	NP_001185782.1:p.Val402LeufsTer23
NM_001198854.1:c.1107del	NP_001185783.1:p.Val370LeufsTer23
NM_001198855.1:c.1203del	NP_001185784.1:p.Val402LeufsTer23
XR_945610.1:n.1548del