Canonical Allele Identifier: CA357087209
Gene: UGT2B15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2233270
ClinVar RCV Id: RCV004094258
gnomAD v4: 4-68670462-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68670462C>T , CM000666.2:g.68670462C>T GRCh38
NC_000004.11:g.69536180C>T , CM000666.1:g.69536180C>T GRCh37
NC_000004.10:g.69218775C>T NCBI36
NG_052676.1:g.5315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.157G>A MANE Select ENSP00000341045.5:p.Val53Met
ENST00000338206.5:c.157G>A ENSP00000341045.5:p.Val53Met
ENST00000616841.4:c.157G>A ENSP00000482004.1:p.Val53Met
NM_001076.3:c.157G>A NP_001067.2:p.Val53Met
NM_001076.4:c.157G>A MANE Select NP_001067.2:p.Val53Met