Canonical Allele Identifier: CA122700
Gene: EPCAM HGNC NCBI
COSMIC:
COSM217250
MyVariant.info:
GRCh38 chr2:g.47373820G>A
GRCh37 chr2:g.47600959G>A
Revel Score:
ENST00000405271 0.900
ENST00000263735 (MANE Select) 0.900
ENST00000419334 0.900
ClinVar RCV:
RCV000013611
ClinVar Variation:
12773
dbSNP:
267606785
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47373820G>A , CM000664.2:g.47373820G>A GRCh38
NC_000002.11:g.47600959G>A , CM000664.1:g.47600959G>A GRCh37
NC_000002.10:g.47454463G>A NCBI36
NG_012352.2:g.33658G>A , LRG_215:g.33658G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.197G>A MANE Select ENSP00000263735.4:p.Cys66Tyr
ENST00000263735.8:c.197G>A ENSP00000263735.4:p.Cys66Tyr
ENST00000405271.5:c.281G>A ENSP00000385476.1:p.Cys94Tyr
ENST00000419334.1:c.425G>A ENSP00000389028.1:p.Cys142Tyr
ENST00000456133.5:c.281G>A ENSP00000410675.1:p.Cys94Tyr
ENST00000474691.1:n.465G>A
ENST00000490733.1:n.46G>A
NM_002354.2:c.197G>A , LRG_215t1:c.197G>A NP_002345.2:p.Cys66Tyr
NM_002354.3:c.197G>A MANE Select NP_002345.2:p.Cys66Tyr
Search 100 bp 5'
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