Canonical Allele Identifier: CA2658944409
Gene: EPCAM HGNC NCBI

Linked Data

gnomAD v4: 2-47377199-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377199C>A , CM000664.2:g.47377199C>A GRCh38
NC_000002.11:g.47604338C>A , CM000664.1:g.47604338C>A GRCh37
NC_000002.10:g.47457842C>A NCBI36
NG_012352.2:g.37037C>A , LRG_215:g.37037C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+122C>A MANE Select ENSP00000263735.4:n.555+122C>A
ENST00000263735.8:c.555+122C>A ENSP00000263735.4:n.555+122C>A
ENST00000405271.5:c.639+122C>A ENSP00000385476.1:n.639+122C>A
ENST00000456133.5:c.639+122C>A ENSP00000410675.1:n.639+122C>A
ENST00000490733.1:n.404+122C>A
NM_002354.2:c.555+122C>A , LRG_215t1:c.555+122C>A NP_002345.2:n.555+122C>A
NM_002354.3:c.555+122C>A MANE Select NP_002345.2:n.555+122C>A
Search 100 bp 5'
Search 100 bp 3'