Canonical Allele Identifier: CA346723976

Gene: EPCAM

Linked Data

• dbSNP Id: rs2103753333
• MyVariant Identifiers: chr2:g.47604170T>A (hg19) ; chr2:g.47377031T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377031T>A , CM000664.2:g.47377031T>A	GRCh38
NC_000002.11:g.47604170T>A , CM000664.1:g.47604170T>A	GRCh37
NC_000002.10:g.47457674T>A	NCBI36
NG_012352.2:g.36869T>A , LRG_215:g.36869T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263735.9:c.509T>A MANE Select	ENSP00000263735.4:p.Ile170Asn
ENST00000263735.8:c.509T>A	ENSP00000263735.4:p.Ile170Asn
ENST00000405271.5:c.593T>A	ENSP00000385476.1:p.Ile198Asn
ENST00000456133.5:c.593T>A	ENSP00000410675.1:p.Ile198Asn
ENST00000490733.1:n.358T>A
NM_002354.2:c.509T>A , LRG_215t1:c.509T>A	NP_002345.2:p.Ile170Asn
NM_002354.3:c.509T>A MANE Select	NP_002345.2:p.Ile170Asn