Canonical Allele Identifier: CA2942357
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs750536796
gnomAD v2: 4-69512856-A-T
gnomAD v3: 4-68647138-A-T
gnomAD v4: 4-68647138-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647138A>T , CM000666.2:g.68647138A>T GRCh38
NC_000004.11:g.69512856A>T , CM000666.1:g.69512856A>T GRCh37
NC_000004.10:g.69195451A>T NCBI36
NG_052676.1:g.28639T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1559T>A MANE Select ENSP00000341045.5:p.Leu520His
ENST00000338206.5:c.1559T>A ENSP00000341045.5:p.Leu520His
ENST00000616841.4:c.1559T>A ENSP00000482004.1:p.Leu520His
NM_001076.3:c.1559T>A NP_001067.2:p.Leu520His
NM_001076.4:c.1559T>A MANE Select NP_001067.2:p.Leu520His