Canonical Allele Identifier: CA5617477

Gene: CYP2C8

Linked Data

• dbSNP Id: rs770284698
• ExAC: 10:96797004 T / C
• gnomAD v2: 10-96797004-T-C
• gnomAD v4: 10-95037247-T-C
• MyVariant Identifiers: chr10:g.96797004T>C (hg19) ; chr10:g.95037247T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.95037247T>C , CM000672.2:g.95037247T>C	GRCh38
NC_000010.10:g.96797004T>C , CM000672.1:g.96797004T>C	GRCh37
NC_000010.9:g.96786994T>C	NCBI36
NG_007972.1:g.37251A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371270.6:c.1354A>G MANE Select	ENSP00000360317.3:p.Ile452Val
ENST00000371270.5:c.1354A>G	ENSP00000360317.3:p.Ile452Val
ENST00000490994.6:c.*1140A>G	ENSP00000433314.1:n.*1140A>G
ENST00000525991.5:c.*929A>G	ENSP00000433842.1:n.*929A>G
ENST00000526814.5:n.1609A>G
ENST00000527420.5:c.*211A>G	ENSP00000433191.1:n.*211A>G
ENST00000527953.5:n.1648A>G
ENST00000531714.1:n.542A>G
ENST00000533320.5:n.1588A>G
ENST00000535898.5:c.1048A>G	ENSP00000445062.1:p.Ile350Val
ENST00000539050.5:c.1144A>G	ENSP00000442343.2:p.Ile382Val
ENST00000623108.3:c.1144A>G	ENSP00000485110.1:p.Ile382Val
NM_000770.3:c.1354A>G MANE Select	NP_000761.3:p.Ile452Val
NM_001198853.1:c.1144A>G	NP_001185782.1:p.Ile382Val
NM_001198854.1:c.1048A>G	NP_001185783.1:p.Ile350Val
NM_001198855.1:c.1144A>G	NP_001185784.1:p.Ile382Val
XR_945610.1:n.1489A>G