Canonical Allele Identifier: CA171016

Gene: EPCAM

Linked Data

• ClinVar Variation Id: 157603
• ClinVar RCV Id: RCV000144936 ; RCV000763487 ; RCV003654209 ; RCV003325189
• dbSNP Id: rs376155665
• ExAC: 2:47606078 A / G
• gnomAD v2: 2-47606078-A-G
• gnomAD v3: 2-47378939-A-G
• gnomAD v4: 2-47378939-A-G
• COSMIC: COSN5792802 ; COSN5792803
• MyVariant Identifiers: chr2:g.47606078A>G (hg19) ; chr2:g.47606078_47606079delinsGT (hg19) ; chr2:g.47378939A>G (hg38) ; chr2:g.47378939_47378940delinsGT (hg38)
• PubMed: PMID:23462293 ; PMID:28701297

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47378939A>G , CM000664.2:g.47378939A>G	GRCh38
NC_000002.11:g.47606078A>G , CM000664.1:g.47606078A>G	GRCh37
NC_000002.10:g.47459582A>G	NCBI36
NG_012352.2:g.38777A>G , LRG_215:g.38777A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.556-14A>G MANE Select	ENSP00000263735.4:n.556-14A>G
ENST00000263735.8:c.556-14A>G	ENSP00000263735.4:n.556-14A>G
ENST00000405271.5:c.640-14A>G	ENSP00000385476.1:n.640-14A>G
ENST00000456133.5:c.640-14A>G	ENSP00000410675.1:n.640-14A>G
ENST00000490733.1:n.405-14A>G
NM_002354.2:c.556-14A>G , LRG_215t1:c.556-14A>G	NP_002345.2:n.556-14A>G
NM_002354.3:c.556-14A>G MANE Select	NP_002345.2:n.556-14A>G