Canonical Allele Identifier: CA211254
Gene: EPCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 12772
ClinVar RCV Id: RCV000013610 RCV000588760
dbSNP Id: rs373597944
ExAC: 2:47602372 G / A
gnomAD v2: 2-47602372-G-A
gnomAD v3: 2-47375233-G-A
gnomAD v4: 2-47375233-G-A
MyVariant Identifiers: chr2:g.47602372G>A (hg19) chr2:g.47375233G>A (hg38)
PubMed: PMID:18572020 PMID:23462293 PMID:25637381
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47375233G>A , CM000664.2:g.47375233G>A GRCh38
NC_000002.11:g.47602372G>A , CM000664.1:g.47602372G>A GRCh37
NC_000002.10:g.47455876G>A NCBI36
NG_012352.2:g.35071G>A , LRG_215:g.35071G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263735.9:c.426-1G>A MANE Select ENSP00000263735.4:n.426-1G>A
ENST00000263735.8:c.426-1G>A ENSP00000263735.4:n.426-1G>A
ENST00000405271.5:c.510-1G>A ENSP00000385476.1:n.510-1G>A
ENST00000456133.5:c.510-1G>A ENSP00000410675.1:n.510-1G>A
ENST00000474691.1:n.694-1G>A
ENST00000490733.1:n.275-1G>A
NM_002354.2:c.426-1G>A , LRG_215t1:c.426-1G>A NP_002345.2:n.426-1G>A
NM_002354.3:c.426-1G>A MANE Select NP_002345.2:n.426-1G>A
Search 100 bp 5'
Search 100 bp 3'