Canonical Allele Identifier: CA2942673

Gene: UGT2B15

Linked Data

• dbSNP Id: rs773037651
• ExAC: 4:69535742 TAAC / T
• gnomAD v2: 4-69535742-TAAC-T
• gnomAD v4: 4-68670024-TAAC-T
• COSMIC: COSM5734698
• MyVariant Identifiers: chr4:g.69535743_69535745del (hg19) ; chr4:g.68670025_68670027del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.68670029_68670031del , CM000666.2:g.68670029_68670031del	GRCh38
NC_000004.11:g.69535747_69535749del , CM000666.1:g.69535747_69535749del	GRCh37
NC_000004.10:g.69218342_69218344del	NCBI36
NG_052676.1:g.5750_5752del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338206.6:c.592_594del MANE Select	ENSP00000341045.5:p.Val198del
ENST00000338206.5:c.592_594del	ENSP00000341045.5:p.Val198del
ENST00000616841.4:c.592_594del	ENSP00000482004.1:p.Val198del
NM_001076.3:c.592_594del	NP_001067.2:p.Val198del
NM_001076.4:c.592_594del MANE Select	NP_001067.2:p.Val198del