Canonical Allele Identifier: CA532337804
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs1359096092
gnomAD v2: 2-47604404-A-T
gnomAD v3: 2-47377265-A-T
gnomAD v4: 2-47377265-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47377265A>T , CM000664.2:g.47377265A>T GRCh38
NC_000002.11:g.47604404A>T , CM000664.1:g.47604404A>T GRCh37
NC_000002.10:g.47457908A>T NCBI36
NG_012352.2:g.37103A>T , LRG_215:g.37103A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.555+188A>T MANE Select ENSP00000263735.4:n.555+188A>T
ENST00000263735.8:c.555+188A>T ENSP00000263735.4:n.555+188A>T
ENST00000405271.5:c.639+188A>T ENSP00000385476.1:n.639+188A>T
ENST00000456133.5:c.639+188A>T ENSP00000410675.1:n.639+188A>T
ENST00000490733.1:n.404+188A>T
NM_002354.2:c.555+188A>T , LRG_215t1:c.555+188A>T NP_002345.2:n.555+188A>T
NM_002354.3:c.555+188A>T MANE Select NP_002345.2:n.555+188A>T