Canonical Allele Identifier: CA1063752293
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs189314018
gnomAD v3: 4-68646617-A-G
gnomAD v4: 4-68646617-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68646617A>G , CM000666.2:g.68646617A>G GRCh38
NC_000004.11:g.69512335A>G , CM000666.1:g.69512335A>G GRCh37
NC_000004.10:g.69194930A>G NCBI36
NG_052676.1:g.29160T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.*487T>C MANE Select ENSP00000341045.5:n.*487T>C
ENST00000616841.4:c.1732+348T>C ENSP00000482004.1:n.1732+348T>C
NM_001076.3:c.*487T>C NP_001067.2:n.*487T>C
NM_001076.4:c.*487T>C MANE Select NP_001067.2:n.*487T>C