Canonical Allele Identifier: CA357083009
Gene: UGT2B15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2256039
ClinVar RCV Id: RCV004112577
gnomAD v4: 4-68647159-C-T
MyVariant Identifiers: chr4:g.69512877C>T (hg19) chr4:g.68647159C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647159C>T , CM000666.2:g.68647159C>T GRCh38
NC_000004.11:g.69512877C>T , CM000666.1:g.69512877C>T GRCh37
NC_000004.10:g.69195472C>T NCBI36
NG_052676.1:g.28618G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1538G>A MANE Select ENSP00000341045.5:p.Cys513Tyr
ENST00000338206.5:c.1538G>A ENSP00000341045.5:p.Cys513Tyr
ENST00000616841.4:c.1538G>A ENSP00000482004.1:p.Cys513Tyr
NM_001076.3:c.1538G>A NP_001067.2:p.Cys513Tyr
NM_001076.4:c.1538G>A MANE Select NP_001067.2:p.Cys513Tyr
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