Canonical Allele Identifier: CA1649038
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs779059677
ExAC: 2:47604168 G / C
gnomAD v2: 2-47604168-G-C
gnomAD v4: 2-47377029-G-C
MyVariant Identifiers: chr2:g.47604168G>C (hg19) chr2:g.47604168_47604171delinsCATC (hg19) chr2:g.47377029G>C (hg38) chr2:g.47377029_47377032delinsCATC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377029G>C , CM000664.2:g.47377029G>C GRCh38
NC_000002.11:g.47604168G>C , CM000664.1:g.47604168G>C GRCh37
NC_000002.10:g.47457672G>C NCBI36
NG_012352.2:g.36867G>C , LRG_215:g.36867G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.507G>C MANE Select ENSP00000263735.4:p.Glu169Asp
ENST00000263735.8:c.507G>C ENSP00000263735.4:p.Glu169Asp
ENST00000405271.5:c.591G>C ENSP00000385476.1:p.Glu197Asp
ENST00000456133.5:c.591G>C ENSP00000410675.1:p.Glu197Asp
ENST00000490733.1:n.356G>C
NM_002354.2:c.507G>C , LRG_215t1:c.507G>C NP_002345.2:p.Glu169Asp
NM_002354.3:c.507G>C MANE Select NP_002345.2:p.Glu169Asp
Search 100 bp 5'
Search 100 bp 3'