Canonical Allele Identifier: CA377682964
Gene: CYP2C8 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.95067273C>G , CM000672.2:g.95067273C>G GRCh38
NC_000010.10:g.96827030C>G , CM000672.1:g.96827030C>G GRCh37
NC_000010.9:g.96817020C>G NCBI36
NG_007972.1:g.7225G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000371270.6:c.416G>C MANE Select ENSP00000360317.3:p.Arg139Thr
ENST00000371270.5:c.416G>C ENSP00000360317.3:p.Arg139Thr
ENST00000479946.2:n.720G>C
ENST00000490994.6:c.*202G>C ENSP00000433314.1:n.*202G>C
ENST00000525991.5:c.291G>C ENSP00000433842.1:p.Glu97Asp
ENST00000526814.5:n.671G>C
ENST00000527420.5:c.416G>C ENSP00000433191.1:p.Arg139Thr
ENST00000527953.5:n.671G>C
ENST00000533320.5:n.650G>C
ENST00000535898.5:c.110G>C ENSP00000445062.1:p.Arg37Thr
ENST00000539050.5:c.206G>C ENSP00000442343.2:p.Arg69Thr
ENST00000623108.3:c.206G>C ENSP00000485110.1:p.Arg69Thr
ENST00000628935.1:c.158G>C ENSP00000487145.1:p.Arg53Thr
NM_000770.3:c.416G>C MANE Select NP_000761.3:p.Arg139Thr
NM_001198853.1:c.206G>C NP_001185782.1:p.Arg69Thr
NM_001198854.1:c.110G>C NP_001185783.1:p.Arg37Thr
NM_001198855.1:c.206G>C NP_001185784.1:p.Arg69Thr
XR_945610.1:n.512G>C