Canonical Allele Identifier: CA5617814

Gene: CYP2C8

Linked Data

• dbSNP Id: rs752917521
• ExAC: 10:96827105 G / A
• gnomAD v2: 10-96827105-G-A
• gnomAD v4: 10-95067348-G-A
• MyVariant Identifiers: chr10:g.96827105G>A (hg19) ; chr10:g.95067348G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95067348G>A , CM000672.2:g.95067348G>A	GRCh38
NC_000010.10:g.96827105G>A , CM000672.1:g.96827105G>A	GRCh37
NC_000010.9:g.96817095G>A	NCBI36
NG_007972.1:g.7150C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.341C>T MANE Select	ENSP00000360317.3:p.Ser114Phe
ENST00000371270.5:c.341C>T	ENSP00000360317.3:p.Ser114Phe
ENST00000479946.2:n.645C>T
ENST00000490994.6:c.*127C>T	ENSP00000433314.1:n.*127C>T
ENST00000525991.5:c.216C>T	ENSP00000433842.1:p.Phe72=
ENST00000526814.5:n.596C>T
ENST00000527420.5:c.341C>T	ENSP00000433191.1:p.Ser114Phe
ENST00000527953.5:n.596C>T
ENST00000533320.5:n.575C>T
ENST00000535898.5:c.35C>T	ENSP00000445062.1:p.Ser12Phe
ENST00000539050.5:c.131C>T	ENSP00000442343.2:p.Ser44Phe
ENST00000623108.3:c.131C>T	ENSP00000485110.1:p.Ser44Phe
ENST00000628935.1:c.83C>T	ENSP00000487145.1:p.Ser28Phe
NM_000770.3:c.341C>T MANE Select	NP_000761.3:p.Ser114Phe
NM_001198853.1:c.131C>T	NP_001185782.1:p.Ser44Phe
NM_001198854.1:c.35C>T	NP_001185783.1:p.Ser12Phe
NM_001198855.1:c.131C>T	NP_001185784.1:p.Ser44Phe
XR_945610.1:n.437C>T