Canonical Allele Identifier: CA349299
Gene: EPCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 220762
ClinVar RCV Id: RCV001464322
dbSNP Id: rs864622648
MyVariant Identifiers: chr2:g.47604223T>A (hg19) chr2:g.47377084T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377084T>A , CM000664.2:g.47377084T>A GRCh38
NC_000002.11:g.47604223T>A , CM000664.1:g.47604223T>A GRCh37
NC_000002.10:g.47457727T>A NCBI36
NG_012352.2:g.36922T>A , LRG_215:g.36922T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+7T>A MANE Select ENSP00000263735.4:n.555+7T>A
ENST00000263735.8:c.555+7T>A ENSP00000263735.4:n.555+7T>A
ENST00000405271.5:c.639+7T>A ENSP00000385476.1:n.639+7T>A
ENST00000456133.5:c.639+7T>A ENSP00000410675.1:n.639+7T>A
ENST00000490733.1:n.404+7T>A
NM_002354.2:c.555+7T>A , LRG_215t1:c.555+7T>A NP_002345.2:n.555+7T>A
NM_002354.3:c.555+7T>A MANE Select NP_002345.2:n.555+7T>A
Search 100 bp 5'
Search 100 bp 3'