Canonical Allele Identifier: CA5617800

Gene: CYP2C8

Linked Data

• ClinVar Variation Id: 1050506
• ClinVar RCV Id: RCV001358021
• dbSNP Id: rs145992929
• ExAC: 10:96827052 G / A
• gnomAD v2: 10-96827052-G-A
• gnomAD v3: 10-95067295-G-A
• gnomAD v4: 10-95067295-G-A
• MyVariant Identifiers: chr10:g.96827052G>A (hg19) ; chr10:g.95067295G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95067295G>A , CM000672.2:g.95067295G>A	GRCh38
NC_000010.10:g.96827052G>A , CM000672.1:g.96827052G>A	GRCh37
NC_000010.9:g.96817042G>A	NCBI36
NG_007972.1:g.7203C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.394C>T MANE Select	ENSP00000360317.3:p.Arg132Trp
ENST00000371270.5:c.394C>T	ENSP00000360317.3:p.Arg132Trp
ENST00000479946.2:n.698C>T
ENST00000490994.6:c.*180C>T	ENSP00000433314.1:n.*180C>T
ENST00000525991.5:c.269C>T	ENSP00000433842.1:p.Ala90Val
ENST00000526814.5:n.649C>T
ENST00000527420.5:c.394C>T	ENSP00000433191.1:p.Arg132Trp
ENST00000527953.5:n.649C>T
ENST00000533320.5:n.628C>T
ENST00000535898.5:c.88C>T	ENSP00000445062.1:p.Arg30Trp
ENST00000539050.5:c.184C>T	ENSP00000442343.2:p.Arg62Trp
ENST00000623108.3:c.184C>T	ENSP00000485110.1:p.Arg62Trp
ENST00000628935.1:c.136C>T	ENSP00000487145.1:p.Arg46Trp
NM_000770.3:c.394C>T MANE Select	NP_000761.3:p.Arg132Trp
NM_001198853.1:c.184C>T	NP_001185782.1:p.Arg62Trp
NM_001198854.1:c.88C>T	NP_001185783.1:p.Arg30Trp
NM_001198855.1:c.184C>T	NP_001185784.1:p.Arg62Trp
XR_945610.1:n.490C>T