Canonical Allele Identifier: CA357085147
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs777096825
gnomAD v2: 4-69535745-C-A
gnomAD v4: 4-68670027-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68670027C>A , CM000666.2:g.68670027C>A GRCh38
NC_000004.11:g.69535745C>A , CM000666.1:g.69535745C>A GRCh37
NC_000004.10:g.69218340C>A NCBI36
NG_052676.1:g.5750G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.592G>T MANE Select ENSP00000341045.5:p.Val198Phe
ENST00000338206.5:c.592G>T ENSP00000341045.5:p.Val198Phe
ENST00000616841.4:c.592G>T ENSP00000482004.1:p.Val198Phe
NM_001076.3:c.592G>T NP_001067.2:p.Val198Phe
NM_001076.4:c.592G>T MANE Select NP_001067.2:p.Val198Phe