Canonical Allele Identifier: CA46641970
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs574283239
gnomAD v2: 2-47604318-C-A
gnomAD v3: 2-47377179-C-A
gnomAD v4: 2-47377179-C-A
MyVariant Identifiers: chr2:g.47604318C>A (hg19) chr2:g.47377179C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377179C>A , CM000664.2:g.47377179C>A GRCh38
NC_000002.11:g.47604318C>A , CM000664.1:g.47604318C>A GRCh37
NC_000002.10:g.47457822C>A NCBI36
NG_012352.2:g.37017C>A , LRG_215:g.37017C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+102C>A MANE Select ENSP00000263735.4:n.555+102C>A
ENST00000263735.8:c.555+102C>A ENSP00000263735.4:n.555+102C>A
ENST00000405271.5:c.639+102C>A ENSP00000385476.1:n.639+102C>A
ENST00000456133.5:c.639+102C>A ENSP00000410675.1:n.639+102C>A
ENST00000490733.1:n.404+102C>A
NM_002354.2:c.555+102C>A , LRG_215t1:c.555+102C>A NP_002345.2:n.555+102C>A
NM_002354.3:c.555+102C>A MANE Select NP_002345.2:n.555+102C>A
Search 100 bp 5'
Search 100 bp 3'