Canonical Allele Identifier: CA2942373
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs763978899
gnomAD v2: 4-69512916-G-A
gnomAD v4: 4-68647198-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647198G>A , CM000666.2:g.68647198G>A GRCh38
NC_000004.11:g.69512916G>A , CM000666.1:g.69512916G>A GRCh37
NC_000004.10:g.69195511G>A NCBI36
NG_052676.1:g.28579C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1499C>T MANE Select ENSP00000341045.5:p.Ala500Val
ENST00000338206.5:c.1499C>T ENSP00000341045.5:p.Ala500Val
ENST00000616841.4:c.1499C>T ENSP00000482004.1:p.Ala500Val
NM_001076.3:c.1499C>T NP_001067.2:p.Ala500Val
NM_001076.4:c.1499C>T MANE Select NP_001067.2:p.Ala500Val