Canonical Allele Identifier: CA349164
Gene: EPCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 219445
ClinVar RCV Id: RCV000204981 RCV001324213 RCV003422108
dbSNP Id: rs864622092
gnomAD v2: 2-47596681-CTTGCCGCGGCGACGGCGACTT-C
gnomAD v3: 2-47369542-CTTGCCGCGGCGACGGCGACTT-C
gnomAD v4: 2-47369542-CTTGCCGCGGCGACGGCGACTT-C
MyVariant Identifiers: chr2:g.47596682_47596702del (hg19) chr2:g.47369543_47369563del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47369550_47369570del , CM000664.2:g.47369550_47369570del GRCh38
NC_000002.11:g.47596689_47596709del , CM000664.1:g.47596689_47596709del GRCh37
NC_000002.10:g.47450193_47450213del NCBI36
NG_012352.2:g.29388_29408del , LRG_215:g.29388_29408del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.45_65del MANE Select ENSP00000263735.4:p.Ala16_Ala22del
ENST00000263735.8:c.45_65del ENSP00000263735.4:p.Ala16_Ala22del
ENST00000405271.5:c.160+315_160+335del ENSP00000385476.1:n.160+315_160+335del
ENST00000419334.1:c.45_65del ENSP00000389028.1:p.Ala16_Ala22del
ENST00000456133.5:c.160+315_160+335del ENSP00000410675.1:n.160+315_160+335del
ENST00000474691.1:n.76_96del
NM_002354.2:c.45_65del , LRG_215t1:c.45_65del NP_002345.2:p.Ala16_Ala22del
NM_002354.3:c.45_65del MANE Select NP_002345.2:p.Ala16_Ala22del
Search 100 bp 5'
Search 100 bp 3'