Canonical Allele Identifier: CA1649050
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs760391956
gnomAD v2: 2-47604260-A-G
gnomAD v4: 2-47377121-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377121A>G , CM000664.2:g.47377121A>G GRCh38
NC_000002.11:g.47604260A>G , CM000664.1:g.47604260A>G GRCh37
NC_000002.10:g.47457764A>G NCBI36
NG_012352.2:g.36959A>G , LRG_215:g.36959A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+44A>G MANE Select ENSP00000263735.4:n.555+44A>G
ENST00000263735.8:c.555+44A>G ENSP00000263735.4:n.555+44A>G
ENST00000405271.5:c.639+44A>G ENSP00000385476.1:n.639+44A>G
ENST00000456133.5:c.639+44A>G ENSP00000410675.1:n.639+44A>G
ENST00000490733.1:n.404+44A>G
NM_002354.2:c.555+44A>G , LRG_215t1:c.555+44A>G NP_002345.2:n.555+44A>G
NM_002354.3:c.555+44A>G MANE Select NP_002345.2:n.555+44A>G