Canonical Allele Identifier: CA532337703
Gene: EPCAM HGNC NCBI

Linked Data

dbSNP Id: rs1157880268
gnomAD v2: 2-47604068-T-C
gnomAD v3: 2-47376929-T-C
gnomAD v4: 2-47376929-T-C
MyVariant Identifiers: chr2:g.47604068T>C (hg19) chr2:g.47376929T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47376929T>C , CM000664.2:g.47376929T>C GRCh38
NC_000002.11:g.47604068T>C , CM000664.1:g.47604068T>C GRCh37
NC_000002.10:g.47457572T>C NCBI36
NG_012352.2:g.36767T>C , LRG_215:g.36767T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.492-85T>C MANE Select ENSP00000263735.4:n.492-85T>C
ENST00000263735.8:c.492-85T>C ENSP00000263735.4:n.492-85T>C
ENST00000405271.5:c.576-85T>C ENSP00000385476.1:n.576-85T>C
ENST00000456133.5:c.576-85T>C ENSP00000410675.1:n.576-85T>C
ENST00000490733.1:n.341-85T>C
NM_002354.2:c.492-85T>C , LRG_215t1:c.492-85T>C NP_002345.2:n.492-85T>C
NM_002354.3:c.492-85T>C MANE Select NP_002345.2:n.492-85T>C
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