Canonical Allele Identifier: CA346724047

Gene: EPCAM

Linked Data

• dbSNP Id: rs2103753463
• gnomAD v4: 2-47377065-C-G
• MyVariant Identifiers: chr2:g.47604204C>G (hg19) ; chr2:g.47377065C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377065C>G , CM000664.2:g.47377065C>G	GRCh38
NC_000002.11:g.47604204C>G , CM000664.1:g.47604204C>G	GRCh37
NC_000002.10:g.47457708C>G	NCBI36
NG_012352.2:g.36903C>G , LRG_215:g.36903C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.543C>G MANE Select	ENSP00000263735.4:p.Ile181Met
ENST00000263735.8:c.543C>G	ENSP00000263735.4:p.Ile181Met
ENST00000405271.5:c.627C>G	ENSP00000385476.1:p.Ile209Met
ENST00000456133.5:c.627C>G	ENSP00000410675.1:p.Ile209Met
ENST00000490733.1:n.392C>G
NM_002354.2:c.543C>G , LRG_215t1:c.543C>G	NP_002345.2:p.Ile181Met
NM_002354.3:c.543C>G MANE Select	NP_002345.2:p.Ile181Met