Canonical Allele Identifier: CA287877

Gene: EPCAM

Linked Data

• ClinVar Variation Id: 127848
• ClinVar RCV Id: RCV000115770 ; RCV000123185 ; RCV000589651 ; RCV000664266
• dbSNP Id: rs146480420
• ExAC: 2:47601029 G / C
• gnomAD v2: 2-47601029-G-C
• gnomAD v3: 2-47373890-G-C
• gnomAD v4: 2-47373890-G-C
• MyVariant Identifiers: chr2:g.47601029G>C (hg19) ; chr2:g.47373890G>C (hg38)
• PubMed: PMID:25637381

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47373890G>C , CM000664.2:g.47373890G>C	GRCh38
NC_000002.11:g.47601029G>C , CM000664.1:g.47601029G>C	GRCh37
NC_000002.10:g.47454533G>C	NCBI36
NG_012352.2:g.33728G>C , LRG_215:g.33728G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.267G>C MANE Select	ENSP00000263735.4:p.Gln89His
ENST00000263735.8:c.267G>C	ENSP00000263735.4:p.Gln89His
ENST00000405271.5:c.351G>C	ENSP00000385476.1:p.Gln117His
ENST00000419334.1:c.495G>C	ENSP00000389028.1:p.Gln165His
ENST00000456133.5:c.351G>C	ENSP00000410675.1:p.Gln117His
ENST00000474691.1:n.535G>C
ENST00000490733.1:n.116G>C
NM_002354.2:c.267G>C , LRG_215t1:c.267G>C	NP_002345.2:p.Gln89His
NM_002354.3:c.267G>C MANE Select	NP_002345.2:p.Gln89His