Canonical Allele Identifier: CA346723280
Gene: EPCAM HGNC NCBI
ClinVar RCV:
RCV002254849
ClinVar Variation:
1691520
dbSNP:
1126497
gnomAD v4:
chr2-47373967-T-A
Joint Max Group AF 0.00000554 (AMR)
Exomes Max Group AF 0.00000741 (AMR)
MyVariant.info:
GRCh38 chr2:g.47373967T>A
GRCh37 chr2:g.47601106T>A
Revel Score:
ENST00000405271 0.237
ENST00000263735 (MANE Select) 0.237
ENST00000419334 0.237
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47373967T>A , CM000664.2:g.47373967T>A GRCh38
NC_000002.11:g.47601106T>A , CM000664.1:g.47601106T>A GRCh37
NC_000002.10:g.47454610T>A NCBI36
NG_012352.2:g.33805T>A , LRG_215:g.33805T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.344T>A MANE Select ENSP00000263735.4:p.Met115Lys
ENST00000263735.8:c.344T>A ENSP00000263735.4:p.Met115Lys
ENST00000405271.5:c.428T>A ENSP00000385476.1:p.Met143Lys
ENST00000419334.1:c.572T>A ENSP00000389028.1:p.Met191Lys
ENST00000456133.5:c.428T>A ENSP00000410675.1:p.Met143Lys
ENST00000474691.1:n.612T>A
ENST00000490733.1:n.193T>A
NM_002354.2:c.344T>A , LRG_215t1:c.344T>A NP_002345.2:p.Met115Lys
NM_002354.3:c.344T>A MANE Select NP_002345.2:p.Met115Lys
Search 100 bp 5'
Search 100 bp 3'