Canonical Allele Identifier: CA346722524

Gene: EPCAM

Linked Data

• dbSNP Id: rs878854485
• gnomAD v4: 2-47373519-C-G
• MyVariant Identifiers: chr2:g.47600658C>G (hg19) ; chr2:g.47373519C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47373519C>G , CM000664.2:g.47373519C>G	GRCh38
NC_000002.11:g.47600658C>G , CM000664.1:g.47600658C>G	GRCh37
NC_000002.10:g.47454162C>G	NCBI36
NG_012352.2:g.33357C>G , LRG_215:g.33357C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263735.9:c.133C>G MANE Select	ENSP00000263735.4:p.Gln45Glu
ENST00000263735.8:c.133C>G	ENSP00000263735.4:p.Gln45Glu
ENST00000405271.5:c.217C>G	ENSP00000385476.1:p.Gln73Glu
ENST00000419334.1:c.361C>G	ENSP00000389028.1:p.Gln121Glu
ENST00000456133.5:c.217C>G	ENSP00000410675.1:p.Gln73Glu
ENST00000474691.1:n.164C>G
NM_002354.2:c.133C>G , LRG_215t1:c.133C>G	NP_002345.2:p.Gln45Glu
NM_002354.3:c.133C>G MANE Select	NP_002345.2:p.Gln45Glu