Canonical Allele Identifier: CA11011755
Gene: EPCAM-DT HGNC NCBI
dbSNP:
10190105
gnomAD v2:
2:47481641 A / G
gnomAD v3:
2:47254502 A / G
gnomAD v4:
chr2-47254502-A-G
Joint Max Group AF 0.53026626 (EAS)
Genomes Max Group AF 0.53026626 (EAS)
MyVariant.info:
GRCh38 chr2:g.47254502A>G
GRCh37 chr2:g.47481641A>G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47254502A>G , CM000664.2:g.47254502A>G GRCh38
NC_000002.11:g.47481641A>G , CM000664.1:g.47481641A>G GRCh37
NC_000002.10:g.47335145A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NR_110207.1:n.175-33179T>C
NR_110208.1:n.404-54959T>C
XR_001739451.1:n.606-1617T>C
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