Canonical Allele Identifier: CA14274637
Gene: UBE2I HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.1299208T>C
GRCh37 chr16:g.1349209T>C
gnomAD v2:
16:1349209 T / C
gnomAD v3:
16:1299208 T / C
gnomAD v4:
chr16-1299208-T-C
Joint Max Group AF 0.88941538 (EAS)
Genomes Max Group AF 0.88933826 (EAS)
Exomes Max Group AF 0.50646558 (NFE)
dbSNP:
7187167
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1299208T>C , CM000678.2:g.1299208T>C GRCh38
NC_000016.9:g.1349209T>C , CM000678.1:g.1349209T>C GRCh37
NC_000016.8:g.1289210T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000711353.1:n.390+7375T>C
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