Canonical Allele Identifier: CA769444111
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs1298913402
gnomAD v3: 2-47376926-C-A
gnomAD v4: 2-47376926-C-A
MyVariant Identifiers: chr2:g.47604065C>A (hg19) chr2:g.47376926C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47376926C>A , CM000664.2:g.47376926C>A GRCh38
NC_000002.11:g.47604065C>A , CM000664.1:g.47604065C>A GRCh37
NC_000002.10:g.47457569C>A NCBI36
NG_012352.2:g.36764C>A , LRG_215:g.36764C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.492-88C>A MANE Select ENSP00000263735.4:n.492-88C>A
ENST00000263735.8:c.492-88C>A ENSP00000263735.4:n.492-88C>A
ENST00000405271.5:c.576-88C>A ENSP00000385476.1:n.576-88C>A
ENST00000456133.5:c.576-88C>A ENSP00000410675.1:n.576-88C>A
ENST00000490733.1:n.341-88C>A
NM_002354.2:c.492-88C>A , LRG_215t1:c.492-88C>A NP_002345.2:n.492-88C>A
NM_002354.3:c.492-88C>A MANE Select NP_002345.2:n.492-88C>A
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