Canonical Allele Identifier: CA336699
Gene: EPCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 215815
ClinVar RCV Id: RCV001484129 RCV002345711
dbSNP Id: rs754990754
ExAC: 2:47604162 G / A
gnomAD v2: 2-47604162-G-A
gnomAD v3: 2-47377023-G-A
gnomAD v4: 2-47377023-G-A
MyVariant Identifiers: chr2:g.47604162G>A (hg19) chr2:g.47377023G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377023G>A , CM000664.2:g.47377023G>A GRCh38
NC_000002.11:g.47604162G>A , CM000664.1:g.47604162G>A GRCh37
NC_000002.10:g.47457666G>A NCBI36
NG_012352.2:g.36861G>A , LRG_215:g.36861G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263735.9:c.501G>A MANE Select ENSP00000263735.4:p.Gln167=
ENST00000263735.8:c.501G>A ENSP00000263735.4:p.Gln167=
ENST00000405271.5:c.585G>A ENSP00000385476.1:p.Gln195=
ENST00000456133.5:c.585G>A ENSP00000410675.1:p.Gln195=
ENST00000490733.1:n.350G>A
NM_002354.2:c.501G>A , LRG_215t1:c.501G>A NP_002345.2:p.Gln167=
NM_002354.3:c.501G>A MANE Select NP_002345.2:p.Gln167=
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Search 100 bp 3'