Canonical Allele Identifier: CA2942760
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs541539149
gnomAD v2: 4-69536159-C-G
gnomAD v3: 4-68670441-C-G
gnomAD v4: 4-68670441-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68670441C>G , CM000666.2:g.68670441C>G GRCh38
NC_000004.11:g.69536159C>G , CM000666.1:g.69536159C>G GRCh37
NC_000004.10:g.69218754C>G NCBI36
NG_052676.1:g.5336G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.178G>C MANE Select ENSP00000341045.5:p.Ala60Pro
ENST00000338206.5:c.178G>C ENSP00000341045.5:p.Ala60Pro
ENST00000616841.4:c.178G>C ENSP00000482004.1:p.Ala60Pro
NM_001076.3:c.178G>C NP_001067.2:p.Ala60Pro
NM_001076.4:c.178G>C MANE Select NP_001067.2:p.Ala60Pro