Canonical Allele Identifier: CA2658944412
Gene: EPCAM HGNC NCBI

Linked Data

gnomAD v4: 2-47377202-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377202G>A , CM000664.2:g.47377202G>A GRCh38
NC_000002.11:g.47604341G>A , CM000664.1:g.47604341G>A GRCh37
NC_000002.10:g.47457845G>A NCBI36
NG_012352.2:g.37040G>A , LRG_215:g.37040G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+125G>A MANE Select ENSP00000263735.4:n.555+125G>A
ENST00000263735.8:c.555+125G>A ENSP00000263735.4:n.555+125G>A
ENST00000405271.5:c.639+125G>A ENSP00000385476.1:n.639+125G>A
ENST00000456133.5:c.639+125G>A ENSP00000410675.1:n.639+125G>A
ENST00000490733.1:n.404+125G>A
NM_002354.2:c.555+125G>A , LRG_215t1:c.555+125G>A NP_002345.2:n.555+125G>A
NM_002354.3:c.555+125G>A MANE Select NP_002345.2:n.555+125G>A