Canonical Allele Identifier: CA2942352
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs756675434
ExAC: 4:69512831 TTTC / T
gnomAD v2: 4-69512831-TTTC-T
gnomAD v3: 4-68647113-TTTC-T
gnomAD v4: 4-68647113-TTTC-T
MyVariant Identifiers: chr4:g.69512832_69512834del (hg19) chr4:g.68647114_68647116del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647122_68647124del , CM000666.2:g.68647122_68647124del GRCh38
NC_000004.11:g.69512840_69512842del , CM000666.1:g.69512840_69512842del GRCh37
NC_000004.10:g.69195435_69195437del NCBI36
NG_052676.1:g.28661_28663del

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1581_1583del MANE Select ENSP00000341045.5:p.Lys528del
ENST00000338206.5:c.1581_1583del ENSP00000341045.5:p.Lys528del
ENST00000616841.4:c.1581_1583del ENSP00000482004.1:p.Lys528del
NM_001076.3:c.1581_1583del NP_001067.2:p.Lys528del
NM_001076.4:c.1581_1583del MANE Select NP_001067.2:p.Lys528del
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