Canonical Allele Identifier: CA186167
Gene: EPCAM HGNC NCBI
ClinVar RCV:
RCV000162369
RCV000244202
RCV000515609
RCV001610467
RCV001657909
RCV003315971
ClinVar Variation:
183700
COSMIC:
COSM3927762
dbSNP:
1126497
gnomAD v2:
2:47601106 T / C
gnomAD v3:
2:47373967 T / C
gnomAD v4:
chr2-47373967-T-C
Joint Max Group AF 0.83373429 (AFR)
Genomes Max Group AF 0.8237142 (AFR)
Exomes Max Group AF 0.8410747 (AFR)
MyVariant.info:
GRCh38 chr2:g.47373967T>C
GRCh37 chr2:g.47601106T>C
Revel Score:
ENST00000405271 0.183
ENST00000263735 (MANE Select) 0.183
ENST00000419334 0.183
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47373967T>C , CM000664.2:g.47373967T>C GRCh38
NC_000002.11:g.47601106T>C , CM000664.1:g.47601106T>C GRCh37
NC_000002.10:g.47454610T>C NCBI36
NG_012352.2:g.33805T>C , LRG_215:g.33805T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.344T>C MANE Select ENSP00000263735.4:p.Met115Thr
ENST00000263735.8:c.344T>C ENSP00000263735.4:p.Met115Thr
ENST00000405271.5:c.428T>C ENSP00000385476.1:p.Met143Thr
ENST00000419334.1:c.572T>C ENSP00000389028.1:p.Met191Thr
ENST00000456133.5:c.428T>C ENSP00000410675.1:p.Met143Thr
ENST00000474691.1:n.612T>C
ENST00000490733.1:n.193T>C
NM_002354.2:c.344T>C , LRG_215t1:c.344T>C NP_002345.2:p.Met115Thr
NM_002354.3:c.344T>C MANE Select NP_002345.2:p.Met115Thr
Search 100 bp 5'
Search 100 bp 3'