Canonical Allele Identifier: CA425947397
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs2103753463
gnomAD v4: 2-47377065-C-A
MyVariant Identifiers: chr2:g.47604204C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377065C>A , CM000664.2:g.47377065C>A GRCh38
NC_000002.11:g.47604204C>A , CM000664.1:g.47604204C>A GRCh37
NC_000002.10:g.47457708C>A NCBI36
NG_012352.2:g.36903C>A , LRG_215:g.36903C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.543C>A MANE Select ENSP00000263735.4:p.Ile181=
ENST00000263735.8:c.543C>A ENSP00000263735.4:p.Ile181=
ENST00000405271.5:c.627C>A ENSP00000385476.1:p.Ile209=
ENST00000456133.5:c.627C>A ENSP00000410675.1:p.Ile209=
ENST00000490733.1:n.392C>A
NM_002354.2:c.543C>A , LRG_215t1:c.543C>A NP_002345.2:p.Ile181=
NM_002354.3:c.543C>A MANE Select NP_002345.2:p.Ile181=
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Search 100 bp 3'