Canonical Allele Identifier: CA425947376

Gene: EPCAM

Linked Data

• ClinVar Variation Id: 3222118
• ClinVar RCV Id: RCV004513536
• gnomAD v4: 2-47377047-A-G
• MyVariant Identifiers: chr2:g.47604186A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377047A>G , CM000664.2:g.47377047A>G	GRCh38
NC_000002.11:g.47604186A>G , CM000664.1:g.47604186A>G	GRCh37
NC_000002.10:g.47457690A>G	NCBI36
NG_012352.2:g.36885A>G , LRG_215:g.36885A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.525A>G MANE Select	ENSP00000263735.4:p.Gln175=
ENST00000263735.8:c.525A>G	ENSP00000263735.4:p.Gln175=
ENST00000405271.5:c.609A>G	ENSP00000385476.1:p.Gln203=
ENST00000456133.5:c.609A>G	ENSP00000410675.1:p.Gln203=
ENST00000490733.1:n.374A>G
NM_002354.2:c.525A>G , LRG_215t1:c.525A>G	NP_002345.2:p.Gln175=
NM_002354.3:c.525A>G MANE Select	NP_002345.2:p.Gln175=