Canonical Allele Identifier: CA346724022

Gene: EPCAM

Linked Data

• dbSNP Id: rs777222396
• gnomAD v4: 2-47377054-C-A
• MyVariant Identifiers: chr2:g.47604193C>A (hg19) ; chr2:g.47377054C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377054C>A , CM000664.2:g.47377054C>A	GRCh38
NC_000002.11:g.47604193C>A , CM000664.1:g.47604193C>A	GRCh37
NC_000002.10:g.47457697C>A	NCBI36
NG_012352.2:g.36892C>A , LRG_215:g.36892C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.532C>A MANE Select	ENSP00000263735.4:p.Pro178Thr
ENST00000263735.8:c.532C>A	ENSP00000263735.4:p.Pro178Thr
ENST00000405271.5:c.616C>A	ENSP00000385476.1:p.Pro206Thr
ENST00000456133.5:c.616C>A	ENSP00000410675.1:p.Pro206Thr
ENST00000490733.1:n.381C>A
NM_002354.2:c.532C>A , LRG_215t1:c.532C>A	NP_002345.2:p.Pro178Thr
NM_002354.3:c.532C>A MANE Select	NP_002345.2:p.Pro178Thr