Canonical Allele Identifier: CA346724040
Gene: EPCAM HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.47604201T>G (hg19) chr2:g.47377062T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377062T>G , CM000664.2:g.47377062T>G GRCh38
NC_000002.11:g.47604201T>G , CM000664.1:g.47604201T>G GRCh37
NC_000002.10:g.47457705T>G NCBI36
NG_012352.2:g.36900T>G , LRG_215:g.36900T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.540T>G MANE Select ENSP00000263735.4:p.Phe180Leu
ENST00000263735.8:c.540T>G ENSP00000263735.4:p.Phe180Leu
ENST00000405271.5:c.624T>G ENSP00000385476.1:p.Phe208Leu
ENST00000456133.5:c.624T>G ENSP00000410675.1:p.Phe208Leu
ENST00000490733.1:n.389T>G
NM_002354.2:c.540T>G , LRG_215t1:c.540T>G NP_002345.2:p.Phe180Leu
NM_002354.3:c.540T>G MANE Select NP_002345.2:p.Phe180Leu
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