Canonical Allele Identifier: CA2942370
Gene: UGT2B15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2596179
ClinVar RCV Id: RCV004338346
dbSNP Id: rs150032309
gnomAD v2: 4-69512911-C-T
gnomAD v3: 4-68647193-C-T
gnomAD v4: 4-68647193-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647193C>T , CM000666.2:g.68647193C>T GRCh38
NC_000004.11:g.69512911C>T , CM000666.1:g.69512911C>T GRCh37
NC_000004.10:g.69195506C>T NCBI36
NG_052676.1:g.28584G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1504G>A MANE Select ENSP00000341045.5:p.Val502Met
ENST00000338206.5:c.1504G>A ENSP00000341045.5:p.Val502Met
ENST00000616841.4:c.1504G>A ENSP00000482004.1:p.Val502Met
NM_001076.3:c.1504G>A NP_001067.2:p.Val502Met
NM_001076.4:c.1504G>A MANE Select NP_001067.2:p.Val502Met