Canonical Allele Identifier: CA332770

Gene: EPCAM

Linked Data

• ClinVar Variation Id: 136020
• ClinVar RCV Id: RCV000123187 ; RCV002274917 ; RCV002321607
• dbSNP Id: rs587780765
• gnomAD v2: 2-47601081-G-A
• gnomAD v3: 2-47373942-G-A
• gnomAD v4: 2-47373942-G-A
• MyVariant Identifiers: chr2:g.47601081G>A (hg19) ; chr2:g.47373942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47373942G>A , CM000664.2:g.47373942G>A	GRCh38
NC_000002.11:g.47601081G>A , CM000664.1:g.47601081G>A	GRCh37
NC_000002.10:g.47454585G>A	NCBI36
NG_012352.2:g.33780G>A , LRG_215:g.33780G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.319G>A MANE Select	ENSP00000263735.4:p.Ala107Thr
ENST00000263735.8:c.319G>A	ENSP00000263735.4:p.Ala107Thr
ENST00000405271.5:c.403G>A	ENSP00000385476.1:p.Ala135Thr
ENST00000419334.1:c.547G>A	ENSP00000389028.1:p.Ala183Thr
ENST00000456133.5:c.403G>A	ENSP00000410675.1:p.Ala135Thr
ENST00000474691.1:n.587G>A
ENST00000490733.1:n.168G>A
NM_002354.2:c.319G>A , LRG_215t1:c.319G>A	NP_002345.2:p.Ala107Thr
NM_002354.3:c.319G>A MANE Select	NP_002345.2:p.Ala107Thr