Canonical Allele Identifier: CA552177750

Gene: UGT2B15

Linked Data

• dbSNP Id: rs4148274
• gnomAD v2: 4-69512447-ATT-A
• gnomAD v3: 4-68646729-ATT-A
• gnomAD v4: 4-68646729-ATT-A
• MyVariant Identifiers: chr4:g.69512448_69512449del (hg19) ; chr4:g.68646730_68646731del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.68646740_68646741del , CM000666.2:g.68646740_68646741del	GRCh38
NC_000004.11:g.69512458_69512459del , CM000666.1:g.69512458_69512459del	GRCh37
NC_000004.10:g.69195053_69195054del	NCBI36
NG_052676.1:g.29046_29047del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338206.6:c.*373_*374del MANE Select	ENSP00000341045.5:n.*373_*374del
ENST00000338206.5:c.*373_*374del	ENSP00000341045.5:n.*373_*374del
ENST00000616841.4:c.1732+234_1732+235del	ENSP00000482004.1:n.1732+234_1732+235del
NM_001076.3:c.*373_*374del	NP_001067.2:n.*373_*374del
NM_001076.4:c.*373_*374del MANE Select	NP_001067.2:n.*373_*374del