Canonical Allele Identifier: CA346724011

Gene: EPCAM

Linked Data

• MyVariant Identifiers: chr2:g.47604188T>G (hg19) ; chr2:g.47377049T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377049T>G , CM000664.2:g.47377049T>G	GRCh38
NC_000002.11:g.47604188T>G , CM000664.1:g.47604188T>G	GRCh37
NC_000002.10:g.47457692T>G	NCBI36
NG_012352.2:g.36887T>G , LRG_215:g.36887T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.527T>G MANE Select	ENSP00000263735.4:p.Leu176Arg
ENST00000263735.8:c.527T>G	ENSP00000263735.4:p.Leu176Arg
ENST00000405271.5:c.611T>G	ENSP00000385476.1:p.Leu204Arg
ENST00000456133.5:c.611T>G	ENSP00000410675.1:p.Leu204Arg
ENST00000490733.1:n.376T>G
NM_002354.2:c.527T>G , LRG_215t1:c.527T>G	NP_002345.2:p.Leu176Arg
NM_002354.3:c.527T>G MANE Select	NP_002345.2:p.Leu176Arg