Canonical Allele Identifier: CA346724063
Gene: EPCAM HGNC NCBI

Linked Data

ClinVar Variation Id: 3222122
ClinVar RCV Id: RCV004513540
dbSNP Id: rs1259006998
gnomAD v2: 2-47604211-A-G
gnomAD v4: 2-47377072-A-G
MyVariant Identifiers: chr2:g.47604211A>G (hg19) chr2:g.47377072A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377072A>G , CM000664.2:g.47377072A>G GRCh38
NC_000002.11:g.47604211A>G , CM000664.1:g.47604211A>G GRCh37
NC_000002.10:g.47457715A>G NCBI36
NG_012352.2:g.36910A>G , LRG_215:g.36910A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.550A>G MANE Select ENSP00000263735.4:p.Ile184Val
ENST00000263735.8:c.550A>G ENSP00000263735.4:p.Ile184Val
ENST00000405271.5:c.634A>G ENSP00000385476.1:p.Ile212Val
ENST00000456133.5:c.634A>G ENSP00000410675.1:p.Ile212Val
ENST00000490733.1:n.399A>G
NM_002354.2:c.550A>G , LRG_215t1:c.550A>G NP_002345.2:p.Ile184Val
NM_002354.3:c.550A>G MANE Select NP_002345.2:p.Ile184Val
Search 100 bp 5'
Search 100 bp 3'