Canonical Allele Identifier: CA346724049

Gene: EPCAM

Linked Data

• dbSNP Id: rs2103753467
• gnomAD v4: 2-47377066-A-G
• MyVariant Identifiers: chr2:g.47604205A>G (hg19) ; chr2:g.47377066A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377066A>G , CM000664.2:g.47377066A>G	GRCh38
NC_000002.11:g.47604205A>G , CM000664.1:g.47604205A>G	GRCh37
NC_000002.10:g.47457709A>G	NCBI36
NG_012352.2:g.36904A>G , LRG_215:g.36904A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.544A>G MANE Select	ENSP00000263735.4:p.Thr182Ala
ENST00000263735.8:c.544A>G	ENSP00000263735.4:p.Thr182Ala
ENST00000405271.5:c.628A>G	ENSP00000385476.1:p.Thr210Ala
ENST00000456133.5:c.628A>G	ENSP00000410675.1:p.Thr210Ala
ENST00000490733.1:n.393A>G
NM_002354.2:c.544A>G , LRG_215t1:c.544A>G	NP_002345.2:p.Thr182Ala
NM_002354.3:c.544A>G MANE Select	NP_002345.2:p.Thr182Ala