Canonical Allele Identifier: CA2942365
Gene: UGT2B15 HGNC NCBI

Linked Data

dbSNP Id: rs527906107
ExAC: 4:69512891 G / C
gnomAD v2: 4-69512891-G-C
gnomAD v3: 4-68647173-G-C
gnomAD v4: 4-68647173-G-C
COSMIC: COSM1056867
MyVariant Identifiers: chr4:g.69512891G>C (hg19) chr4:g.68647173G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68647173G>C , CM000666.2:g.68647173G>C GRCh38
NC_000004.11:g.69512891G>C , CM000666.1:g.69512891G>C GRCh37
NC_000004.10:g.69195486G>C NCBI36
NG_052676.1:g.28604C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.1524C>G MANE Select ENSP00000341045.5:p.Ile508Met
ENST00000338206.5:c.1524C>G ENSP00000341045.5:p.Ile508Met
ENST00000616841.4:c.1524C>G ENSP00000482004.1:p.Ile508Met
NM_001076.3:c.1524C>G NP_001067.2:p.Ile508Met
NM_001076.4:c.1524C>G MANE Select NP_001067.2:p.Ile508Met
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