Canonical Allele Identifier: CA2942721

Gene: UGT2B15

Linked Data

• dbSNP Id: rs137927185
• ExAC: 4:69535952 T / C
• gnomAD v2: 4-69535952-T-C
• gnomAD v3: 4-68670234-T-C
• gnomAD v4: 4-68670234-T-C
• MyVariant Identifiers: chr4:g.69535952T>C (hg19) ; chr4:g.69535952_69535954delinsCAC (hg19) ; chr4:g.68670234T>C (hg38) ; chr4:g.68670234_68670236delinsCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.68670234T>C , CM000666.2:g.68670234T>C	GRCh38
NC_000004.11:g.69535952T>C , CM000666.1:g.69535952T>C	GRCh37
NC_000004.10:g.69218547T>C	NCBI36
NG_052676.1:g.5543A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338206.6:c.385A>G MANE Select	ENSP00000341045.5:p.Lys129Glu
ENST00000338206.5:c.385A>G	ENSP00000341045.5:p.Lys129Glu
ENST00000616841.4:c.385A>G	ENSP00000482004.1:p.Lys129Glu
NM_001076.3:c.385A>G	NP_001067.2:p.Lys129Glu
NM_001076.4:c.385A>G MANE Select	NP_001067.2:p.Lys129Glu