Canonical Allele Identifier: CA357084849

Gene: UGT2B15

Linked Data

• dbSNP Id: rs1733249905
• gnomAD v3: 4-68669904-C-T
• gnomAD v4: 4-68669904-C-T
• COSMIC: COSM1056873
• MyVariant Identifiers: chr4:g.69535622C>T (hg19) ; chr4:g.68669904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.68669904C>T , CM000666.2:g.68669904C>T	GRCh38
NC_000004.11:g.69535622C>T , CM000666.1:g.69535622C>T	GRCh37
NC_000004.10:g.69218217C>T	NCBI36
NG_052676.1:g.5873G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338206.6:c.715G>A MANE Select	ENSP00000341045.5:p.Glu239Lys
ENST00000338206.5:c.715G>A	ENSP00000341045.5:p.Glu239Lys
ENST00000616841.4:c.715G>A	ENSP00000482004.1:p.Glu239Lys
NM_001076.3:c.715G>A	NP_001067.2:p.Glu239Lys
NM_001076.4:c.715G>A MANE Select	NP_001067.2:p.Glu239Lys