Canonical Allele Identifier: CA2942349
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs554873308
gnomAD v2: 4-69512826-T-A
gnomAD v3: 4-68647108-T-A
gnomAD v4: 4-68647108-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647108T>A , CM000666.2:g.68647108T>A GRCh38
NC_000004.11:g.69512826T>A , CM000666.1:g.69512826T>A GRCh37
NC_000004.10:g.69195421T>A NCBI36
NG_052676.1:g.28669A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1589A>T MANE Select ENSP00000341045.5:p.Asp530Val
ENST00000338206.5:c.1589A>T ENSP00000341045.5:p.Asp530Val
ENST00000616841.4:c.1589A>T ENSP00000482004.1:p.Asp530Val
NM_001076.3:c.1589A>T NP_001067.2:p.Asp530Val
NM_001076.4:c.1589A>T MANE Select NP_001067.2:p.Asp530Val