Canonical Allele Identifier: CA532337731
Gene: EPCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 2585459
ClinVar RCV Id: RCV003338075
dbSNP Id: rs1558436866
gnomAD v2: 2-47604168-GATC-G
MyVariant Identifiers: chr2:g.47604169_47604171del (hg19) chr2:g.47377030_47377032del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377031_47377033del , CM000664.2:g.47377031_47377033del GRCh38
NC_000002.11:g.47604170_47604172del , CM000664.1:g.47604170_47604172del GRCh37
NC_000002.10:g.47457674_47457676del NCBI36
NG_012352.2:g.36869_36871del , LRG_215:g.36869_36871del

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.509_511del MANE Select ENSP00000263735.4:p.Ile170del
ENST00000263735.8:c.509_511del ENSP00000263735.4:p.Ile170del
ENST00000405271.5:c.593_595del ENSP00000385476.1:p.Ile198del
ENST00000456133.5:c.593_595del ENSP00000410675.1:p.Ile198del
ENST00000490733.1:n.358_360del
NM_002354.2:c.509_511del , LRG_215t1:c.509_511del NP_002345.2:p.Ile170del
NM_002354.3:c.509_511del MANE Select NP_002345.2:p.Ile170del
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