Canonical Allele Identifier: CA2658944291
Gene: EPCAM HGNC NCBI

Linked Data

gnomAD v4: 2-47376939-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47376939G>A , CM000664.2:g.47376939G>A GRCh38
NC_000002.11:g.47604078G>A , CM000664.1:g.47604078G>A GRCh37
NC_000002.10:g.47457582G>A NCBI36
NG_012352.2:g.36777G>A , LRG_215:g.36777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.492-75G>A MANE Select ENSP00000263735.4:n.492-75G>A
ENST00000263735.8:c.492-75G>A ENSP00000263735.4:n.492-75G>A
ENST00000405271.5:c.576-75G>A ENSP00000385476.1:n.576-75G>A
ENST00000456133.5:c.576-75G>A ENSP00000410675.1:n.576-75G>A
ENST00000490733.1:n.341-75G>A
NM_002354.2:c.492-75G>A , LRG_215t1:c.492-75G>A NP_002345.2:n.492-75G>A
NM_002354.3:c.492-75G>A MANE Select NP_002345.2:n.492-75G>A