Canonical Allele Identifier: CA346724037
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs2103753448
MyVariant Identifiers: chr2:g.47604200T>C (hg19) chr2:g.47377061T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377061T>C , CM000664.2:g.47377061T>C GRCh38
NC_000002.11:g.47604200T>C , CM000664.1:g.47604200T>C GRCh37
NC_000002.10:g.47457704T>C NCBI36
NG_012352.2:g.36899T>C , LRG_215:g.36899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.539T>C MANE Select ENSP00000263735.4:p.Phe180Ser
ENST00000263735.8:c.539T>C ENSP00000263735.4:p.Phe180Ser
ENST00000405271.5:c.623T>C ENSP00000385476.1:p.Phe208Ser
ENST00000456133.5:c.623T>C ENSP00000410675.1:p.Phe208Ser
ENST00000490733.1:n.388T>C
NM_002354.2:c.539T>C , LRG_215t1:c.539T>C NP_002345.2:p.Phe180Ser
NM_002354.3:c.539T>C MANE Select NP_002345.2:p.Phe180Ser
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