Canonical Allele Identifier: CA10581979
Gene: EPCAM HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.47375237G>A
GRCh37 chr2:g.47602376G>A
gnomAD v2:
2:47602376 G / A
gnomAD v4:
chr2-47375237-G-A
Joint Max Group AF 0.00000125 (NFE)
Exomes Max Group AF 0.00000133 (NFE)
ClinVar RCV:
RCV001390584
ClinVar Variation:
239127
dbSNP:
878854488
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47375237G>A , CM000664.2:g.47375237G>A GRCh38
NC_000002.11:g.47602376G>A , CM000664.1:g.47602376G>A GRCh37
NC_000002.10:g.47455880G>A NCBI36
NG_012352.2:g.35075G>A , LRG_215:g.35075G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.429G>A MANE Select ENSP00000263735.4:p.Trp143Ter
ENST00000263735.8:c.429G>A ENSP00000263735.4:p.Trp143Ter
ENST00000405271.5:c.513G>A ENSP00000385476.1:p.Trp171Ter
ENST00000456133.5:c.513G>A ENSP00000410675.1:p.Trp171Ter
ENST00000474691.1:n.697G>A
ENST00000490733.1:n.278G>A
NM_002354.2:c.429G>A , LRG_215t1:c.429G>A NP_002345.2:p.Trp143Ter
NM_002354.3:c.429G>A MANE Select NP_002345.2:p.Trp143Ter
Search 100 bp 5'
Search 100 bp 3'