Canonical Allele Identifier: CA1649200
Gene: EPCAM HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.47385211G>A
GRCh37 chr2:g.47612350G>A
gnomAD v2:
2:47612350 G / A
gnomAD v4:
chr2-47385211-G-A
Joint Max Group AF 0.00001146 (NFE)
Exomes Max Group AF 0.00001216 (NFE)
ClinVar RCV:
RCV001648492
ClinVar Variation:
1244227
dbSNP:
751264236
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47385211G>A , CM000664.2:g.47385211G>A GRCh38
NC_000002.11:g.47612350G>A , CM000664.1:g.47612350G>A GRCh37
NC_000002.10:g.47465854G>A NCBI36
NG_012352.2:g.45049G>A , LRG_215:g.45049G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.903+1G>A MANE Select ENSP00000263735.4:n.903+1G>A
ENST00000263735.8:c.903+1G>A ENSP00000263735.4:n.903+1G>A
ENST00000405271.5:c.987+1G>A ENSP00000385476.1:n.987+1G>A
ENST00000456133.5:c.987+1G>A ENSP00000410675.1:n.987+1G>A
NM_002354.2:c.903+1G>A , LRG_215t1:c.903+1G>A NP_002345.2:n.903+1G>A
NM_002354.3:c.903+1G>A MANE Select NP_002345.2:n.903+1G>A
Search 100 bp 5'
Search 100 bp 3'