Canonical Allele Identifier: CA2942354
Gene: UGT2B15 HGNC NCBI

Linked Data

ClinVar Variation Id: 791440
ClinVar RCV Id: RCV000974405
dbSNP Id: rs146711063
ExAC: 4:69512835 T / C
gnomAD v2: 4-69512835-T-C
gnomAD v3: 4-68647117-T-C
gnomAD v4: 4-68647117-T-C
MyVariant Identifiers: chr4:g.69512835T>C (hg19) chr4:g.68647117T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647117T>C , CM000666.2:g.68647117T>C GRCh38
NC_000004.11:g.69512835T>C , CM000666.1:g.69512835T>C GRCh37
NC_000004.10:g.69195430T>C NCBI36
NG_052676.1:g.28660A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1580A>G MANE Select ENSP00000341045.5:p.Lys527Arg
ENST00000338206.5:c.1580A>G ENSP00000341045.5:p.Lys527Arg
ENST00000616841.4:c.1580A>G ENSP00000482004.1:p.Lys527Arg
NM_001076.3:c.1580A>G NP_001067.2:p.Lys527Arg
NM_001076.4:c.1580A>G MANE Select NP_001067.2:p.Lys527Arg
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Search 100 bp 3'