Canonical Allele Identifier: CA425947382
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs2103753408
MyVariant Identifiers: chr2:g.47604189G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377050G>C , CM000664.2:g.47377050G>C GRCh38
NC_000002.11:g.47604189G>C , CM000664.1:g.47604189G>C GRCh37
NC_000002.10:g.47457693G>C NCBI36
NG_012352.2:g.36888G>C , LRG_215:g.36888G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.528G>C MANE Select ENSP00000263735.4:p.Leu176=
ENST00000263735.8:c.528G>C ENSP00000263735.4:p.Leu176=
ENST00000405271.5:c.612G>C ENSP00000385476.1:p.Leu204=
ENST00000456133.5:c.612G>C ENSP00000410675.1:p.Leu204=
ENST00000490733.1:n.377G>C
NM_002354.2:c.528G>C , LRG_215t1:c.528G>C NP_002345.2:p.Leu176=
NM_002354.3:c.528G>C MANE Select NP_002345.2:p.Leu176=