Canonical Allele Identifier: CA10581976
Gene: EPCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 239120
ClinVar RCV Id: RCV001384420
dbSNP Id: rs878854485
gnomAD v4: 2-47373519-C-T
MyVariant Identifiers: chr2:g.47600658C>T (hg19) chr2:g.47373519C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47373519C>T , CM000664.2:g.47373519C>T GRCh38
NC_000002.11:g.47600658C>T , CM000664.1:g.47600658C>T GRCh37
NC_000002.10:g.47454162C>T NCBI36
NG_012352.2:g.33357C>T , LRG_215:g.33357C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000263735.9:c.133C>T MANE Select ENSP00000263735.4:p.Gln45Ter
ENST00000263735.8:c.133C>T ENSP00000263735.4:p.Gln45Ter
ENST00000405271.5:c.217C>T ENSP00000385476.1:p.Gln73Ter
ENST00000419334.1:c.361C>T ENSP00000389028.1:p.Gln121Ter
ENST00000456133.5:c.217C>T ENSP00000410675.1:p.Gln73Ter
ENST00000474691.1:n.164C>T
NM_002354.2:c.133C>T , LRG_215t1:c.133C>T NP_002345.2:p.Gln45Ter
NM_002354.3:c.133C>T MANE Select NP_002345.2:p.Gln45Ter
Search 100 bp 5'
Search 100 bp 3'