{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA411686319",
  "communityStandardTitle": [
    "NM_001429.4(EP300):c.1528+2T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4104431",
        "active": true,
        "id": "COSM4104431"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1671096[alleleid]",
        "alleleId": 1671096,
        "preferredName": "NM_001429.4(EP300):c.1528+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1679190",
        "RCV": [
          "RCV002226633"
        ],
        "variationId": 1679190
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.41527639T>C?assembly=hg19",
        "id": "chr22:g.41527639T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.41131635T>C?assembly=hg38",
        "id": "chr22:g.41131635T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2145715940",
        "rs": 2145715940
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 41131635,
          "referenceAllele": "T",
          "start": 41131634
        }
      ],
      "hgvs": [
        "NC_000022.11:g.41131635T>C",
        "CM000684.2:g.41131635T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 41527639,
          "referenceAllele": "T",
          "start": 41527638
        }
      ],
      "hgvs": [
        "NC_000022.10:g.41527639T>C",
        "CM000684.1:g.41527639T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "C",
          "end": 39857585,
          "referenceAllele": "T",
          "start": 39857584
        }
      ],
      "hgvs": [
        "NC_000022.9:g.39857585T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44026,
          "referenceAllele": "T",
          "start": 44025
        }
      ],
      "hgvs": [
        "NG_009817.1:g.44026T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001654"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1613,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000703544.1:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000515365.1:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS911787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1412,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1412,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000703545.1:c.1412+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1941,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000263253.9:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263253.7:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263253.9:c.1528+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001429.4:c.1528+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263253.7:n.1528+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001420.2:n.1528+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1528,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1528,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000674155.1:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501078.1:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774170"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2747,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 2747,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000263253.8:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263253.7:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251221"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 101,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 101,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "ENST00000634690.1:c.101+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS407911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1923,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1923,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001429.3:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001420.2:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026813"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1726,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1726,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "XM_006724165.2:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724228.1:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075387"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1923,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1923,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001362843.1:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349772.1:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1941,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001429.4:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001420.2:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000263253.9:c.1528+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_001429.4:c.1528+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000263253.7:n.1528+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_001420.2:n.1528+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1941,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 1941,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003373",
      "geneNCBI_id": 2033,
      "geneSymbol": "EP300",
      "hgvs": [
        "NM_001362843.2:c.1528+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349772.1:n.1528+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690558"
    }
  ],
  "type": "nucleotide"
}