Canonical Allele Identifier: CA346723975

Gene: EPCAM

Linked Data

• dbSNP Id: rs2103753326
• MyVariant Identifiers: chr2:g.47604169A>T (hg19) ; chr2:g.47377030A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377030A>T , CM000664.2:g.47377030A>T	GRCh38
NC_000002.11:g.47604169A>T , CM000664.1:g.47604169A>T	GRCh37
NC_000002.10:g.47457673A>T	NCBI36
NG_012352.2:g.36868A>T , LRG_215:g.36868A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263735.9:c.508A>T MANE Select	ENSP00000263735.4:p.Ile170Phe
ENST00000263735.8:c.508A>T	ENSP00000263735.4:p.Ile170Phe
ENST00000405271.5:c.592A>T	ENSP00000385476.1:p.Ile198Phe
ENST00000456133.5:c.592A>T	ENSP00000410675.1:p.Ile198Phe
ENST00000490733.1:n.357A>T
NM_002354.2:c.508A>T , LRG_215t1:c.508A>T	NP_002345.2:p.Ile170Phe
NM_002354.3:c.508A>T MANE Select	NP_002345.2:p.Ile170Phe