{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1649081",
  "communityStandardTitle": [
    "NM_002354.3(EPCAM):c.556-14A>T"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/ncv/overview?id=24371070",
        "active": true,
        "id": "COSN24371070"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/ncv/overview?id=24371071",
        "active": true,
        "id": "COSN24371071"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3840994[alleleid]",
        "alleleId": 3840994,
        "preferredName": "NM_002354.3(EPCAM):c.556-14A>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3711432",
        "RCV": [
          "RCV005193287"
        ],
        "variationId": 3711432
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-47606078-A-T",
        "id": "2-47606078-A-T",
        "variant": "2:47606078 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47606078A>T?assembly=hg19",
        "id": "chr2:g.47606078A>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47606078_47606079delinsTT?assembly=hg19",
        "id": "chr2:g.47606078_47606079delinsTT"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47378939A>T?assembly=hg38",
        "id": "chr2:g.47378939A>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.47378939_47378940delinsTT?assembly=hg38",
        "id": "chr2:g.47378939_47378940delinsTT"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376155665",
        "rs": 376155665
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47606078-A-T?dataset=gnomad_r2_1",
        "id": "2-47606078-A-T",
        "variant": "2:47606078 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-47378939-A-T?dataset=gnomad_r4",
        "id": "2-47378939-A-T",
        "variant": "2:47378939 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 47378939,
          "referenceAllele": "A",
          "start": 47378938
        }
      ],
      "hgvs": [
        "NC_000002.12:g.47378939A>T",
        "CM000664.2:g.47378939A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 47606078,
          "referenceAllele": "A",
          "start": 47606077
        }
      ],
      "hgvs": [
        "NC_000002.11:g.47606078A>T",
        "CM000664.1:g.47606078A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 47459582,
          "referenceAllele": "A",
          "start": 47459581
        }
      ],
      "hgvs": [
        "NC_000002.10:g.47459582A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 38777,
          "referenceAllele": "A",
          "start": 38776
        }
      ],
      "hgvs": [
        "NG_012352.2:g.38777A>T",
        "LRG_215:g.38777A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002386"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 750,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "ENST00000263735.9:c.556-14A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263735.4:n.556-14A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742559",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263735.9:c.556-14A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002354.3:c.556-14A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263735.4:n.556-14A>T"
          },
          "RefSeq": {
            "hgvs": "NP_002345.2:n.556-14A>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 913,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "ENST00000263735.8:c.556-14A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263735.4:n.556-14A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 853,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 853,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "ENST00000405271.5:c.640-14A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385476.1:n.640-14A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 848,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 848,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "ENST00000456133.5:c.640-14A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410675.1:n.640-14A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 404,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 404,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "ENST00000490733.1:n.405-14A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328483"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 913,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 913,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "NM_002354.2:c.556-14A>T",
        "LRG_215t1:c.556-14A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002345.2:n.556-14A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027663"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 750,
          "endIntronDirection": "-",
          "endIntronOffset": 13,
          "referenceAllele": "A",
          "start": 750,
          "startIntronDirection": "-",
          "startIntronOffset": 14
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011529",
      "geneNCBI_id": 4072,
      "geneSymbol": "EPCAM",
      "hgvs": [
        "NM_002354.3:c.556-14A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002345.2:n.556-14A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263735.9:c.556-14A>T"
          },
          "RefSeq": {
            "hgvs": "NM_002354.3:c.556-14A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263735.4:n.556-14A>T"
          },
          "RefSeq": {
            "hgvs": "NP_002345.2:n.556-14A>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}