Canonical Allele Identifier: CA2942660
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs762835403
gnomAD v2: 4-69535658-T-C
gnomAD v3: 4-68669940-T-C
gnomAD v4: 4-68669940-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68669940T>C , CM000666.2:g.68669940T>C GRCh38
NC_000004.11:g.69535658T>C , CM000666.1:g.69535658T>C GRCh37
NC_000004.10:g.69218253T>C NCBI36
NG_052676.1:g.5837A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.679A>G MANE Select ENSP00000341045.5:p.Ile227Val
ENST00000338206.5:c.679A>G ENSP00000341045.5:p.Ile227Val
ENST00000616841.4:c.679A>G ENSP00000482004.1:p.Ile227Val
NM_001076.3:c.679A>G NP_001067.2:p.Ile227Val
NM_001076.4:c.679A>G MANE Select NP_001067.2:p.Ile227Val