Canonical Allele Identifier: CA346724003
Gene: EPCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 3222117
ClinVar RCV Id: RCV004513535
dbSNP Id: rs878854491
MyVariant Identifiers: chr2:g.47604184C>G (hg19) chr2:g.47377045C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377045C>G , CM000664.2:g.47377045C>G GRCh38
NC_000002.11:g.47604184C>G , CM000664.1:g.47604184C>G GRCh37
NC_000002.10:g.47457688C>G NCBI36
NG_012352.2:g.36883C>G , LRG_215:g.36883C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.523C>G MANE Select ENSP00000263735.4:p.Gln175Glu
ENST00000263735.8:c.523C>G ENSP00000263735.4:p.Gln175Glu
ENST00000405271.5:c.607C>G ENSP00000385476.1:p.Gln203Glu
ENST00000456133.5:c.607C>G ENSP00000410675.1:p.Gln203Glu
ENST00000490733.1:n.372C>G
NM_002354.2:c.523C>G , LRG_215t1:c.523C>G NP_002345.2:p.Gln175Glu
NM_002354.3:c.523C>G MANE Select NP_002345.2:p.Gln175Glu
Search 100 bp 5'
Search 100 bp 3'