Canonical Allele Identifier: CA658683183

Gene: EPCAM

Linked Data

• ClinVar Variation Id: 488505
• ClinVar RCV Id: RCV000578221
• dbSNP Id: rs1553342984
• gnomAD v4: 2-47373996-A-AC
• MyVariant Identifiers: chr2:g.47601135_47601136insC (hg19) ; chr2:g.47373996_47373997insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47373996_47373997insC , CM000664.2:g.47373996_47373997insC	GRCh38
NC_000002.11:g.47601135_47601136insC , CM000664.1:g.47601135_47601136insC	GRCh37
NC_000002.10:g.47454639_47454640insC	NCBI36
NG_012352.2:g.33834_33835insC , LRG_215:g.33834_33835insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000263735.9:c.373_374insC MANE Select	ENSP00000263735.4:p.Arg125ThrfsTer8
ENST00000263735.8:c.373_374insC	ENSP00000263735.4:p.Arg125ThrfsTer8
ENST00000405271.5:c.457_458insC	ENSP00000385476.1:p.Arg153ThrfsTer8
ENST00000456133.5:c.457_458insC	ENSP00000410675.1:p.Arg153ThrfsTer8
ENST00000474691.1:n.641_642insC
ENST00000490733.1:n.222_223insC
NM_002354.2:c.373_374insC , LRG_215t1:c.373_374insC	NP_002345.2:p.Arg125ThrfsTer8
NM_002354.3:c.373_374insC MANE Select	NP_002345.2:p.Arg125ThrfsTer8