Canonical Allele Identifier: CA2942748
Gene: UGT2B15 HGNC NCBI
COSMIC:
COSM4003119
dbSNP:
1902023
gnomAD v2:
4:69536084 A / C
gnomAD v3:
4:68670366 A / C
gnomAD v4:
chr4-68670366-A-C
Joint Max Group AF 0.60681926 (AMR)
Genomes Max Group AF 0.58246747 (AFR)
Exomes Max Group AF 0.6164192 (AMR)
MyVariant.info:
GRCh38 chr4:g.68670366A>C
GRCh37 chr4:g.69536084A>C
Revel Score:
ENST00000338206 (MANE Select) 0.050
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.68670366A>C , CM000666.2:g.68670366A>C GRCh38
NC_000004.11:g.69536084A>C , CM000666.1:g.69536084A>C GRCh37
NC_000004.10:g.69218679A>C NCBI36
NG_052676.1:g.5411T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000338206.6:c.253T>G MANE Select ENSP00000341045.5:p.Tyr85Asp
ENST00000338206.5:c.253T>G ENSP00000341045.5:p.Tyr85Asp
ENST00000616841.4:c.253T>G ENSP00000482004.1:p.Tyr85Asp
NM_001076.3:c.253T>G NP_001067.2:p.Tyr85Asp
NM_001076.4:c.253T>G MANE Select NP_001067.2:p.Tyr85Asp
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