Canonical Allele Identifier: CA10614050
Gene: EPCAM HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.47386731T>C
GRCh37 chr2:g.47613870T>C
gnomAD v2:
2:47613870 T / C
gnomAD v3:
2:47386731 T / C
gnomAD v4:
chr2-47386731-T-C
Joint Max Group AF 0.15881187 (EAS)
Genomes Max Group AF 0.16607874 (EAS)
Exomes Max Group AF 0.15661177 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47386731T>C , CM000664.2:g.47386731T>C GRCh38
NC_000002.11:g.47613870T>C , CM000664.1:g.47613870T>C GRCh37
NC_000002.10:g.47467374T>C NCBI36
NG_012352.2:g.46569T>C , LRG_215:g.46569T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263735.9:c.*118T>C MANE Select ENSP00000263735.4:n.*118T>C
ENST00000263735.8:c.*118T>C ENSP00000263735.4:n.*118T>C
ENST00000405271.5:c.*118T>C ENSP00000385476.1:n.*118T>C
ENST00000456133.5:c.*118T>C ENSP00000410675.1:n.*118T>C
NM_002354.2:c.*118T>C , LRG_215t1:c.*118T>C NP_002345.2:n.*118T>C
NM_002354.3:c.*118T>C MANE Select NP_002345.2:n.*118T>C
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