Canonical Allele Identifier: CA346723983

Gene: EPCAM

Linked Data

• dbSNP Id: rs2103753345
• gnomAD v4: 2-47377034-C-T
• MyVariant Identifiers: chr2:g.47604173C>T (hg19) ; chr2:g.47377034C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47377034C>T , CM000664.2:g.47377034C>T	GRCh38
NC_000002.11:g.47604173C>T , CM000664.1:g.47604173C>T	GRCh37
NC_000002.10:g.47457677C>T	NCBI36
NG_012352.2:g.36872C>T , LRG_215:g.36872C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263735.9:c.512C>T MANE Select	ENSP00000263735.4:p.Thr171Ile
ENST00000263735.8:c.512C>T	ENSP00000263735.4:p.Thr171Ile
ENST00000405271.5:c.596C>T	ENSP00000385476.1:p.Thr199Ile
ENST00000456133.5:c.596C>T	ENSP00000410675.1:p.Thr199Ile
ENST00000490733.1:n.361C>T
NM_002354.2:c.512C>T , LRG_215t1:c.512C>T	NP_002345.2:p.Thr171Ile
NM_002354.3:c.512C>T MANE Select	NP_002345.2:p.Thr171Ile