{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2410906102",
  "communityStandardTitle": [
    "NM_005138.3(SCO2):c.283C= (p.Arg95=)",
    "NM_152299.4(NCAPH2):c.*754G="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/748973032",
        "rs": 748973032
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50524129,
          "referenceAllele": "G",
          "start": 50524128
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50524129G=",
        "CM000684.2:g.50524129G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 50962558,
          "referenceAllele": "G",
          "start": 50962557
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50962558G=",
        "CM000684.1:g.50962558G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 49309424,
          "referenceAllele": "G",
          "start": 49309423
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49309424G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10957,
          "referenceAllele": "C",
          "start": 10956
        }
      ],
      "hgvs": [
        "NG_011860.1:g.10957C=",
        "LRG_727:g.10957C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7311,
          "referenceAllele": "C",
          "start": 7310
        }
      ],
      "hgvs": [
        "NG_016235.1:g.7311C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20914,
          "referenceAllele": "G",
          "start": 20913
        }
      ],
      "hgvs": [
        "NG_021419.1:g.20914G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003644"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "ENST00000395693.8:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379046.4:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395693.8:c.283C="
          },
          "RefSeq": {
            "hgvs": "NM_005138.3:c.283C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379046.4:p.Arg95="
          },
          "RefSeq": {
            "hgvs": "NP_005129.2:p.Arg95="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "ENST00000420993.7:c.*754G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410088.2:n.*754G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000420993.7:c.*754G="
          },
          "RefSeq": {
            "hgvs": "NM_152299.4:c.*754G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410088.2:n.*754G="
          },
          "RefSeq": {
            "hgvs": "NP_689512.2:n.*754G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "referenceAllele": "C",
          "start": 511
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "ENST00000543927.6:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444433.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759753"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "ENST00000638598.2:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491753.2:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764608"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "hgvs": [
        "ENST00000252785.3:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252785.3:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249856"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "hgvs": [
        "ENST00000395693.7:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379046.3:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "hgvs": [
        "ENST00000423348.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403570.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287717"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "hgvs": [
        "ENST00000439934.5:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415642.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "hgvs": [
        "ENST00000535425.5:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444242.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359724"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "hgvs": [
        "ENST00000543927.5:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444433.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364285"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169109.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162580.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015144"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 441,
          "referenceAllele": "C",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169110.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162581.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015145"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169111.1:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162582.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2697,
          "referenceAllele": "G",
          "start": 2696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "NM_001185011.1:c.*754G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171940.1:n.*754G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088621696",
      "coordinates": [
        {
          "allele": "C",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_005138.2:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005129.2:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2694,
          "referenceAllele": "G",
          "start": 2693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "NM_152299.3:c.*754G="
      ],
      "proteinEffect": {
        "hgvs": "NP_689512.2:n.*754G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2782,
          "referenceAllele": "G",
          "start": 2781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "XR_001755232.1:n.2782G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "NM_152299.4:c.*754G="
      ],
      "proteinEffect": {
        "hgvs": "NP_689512.2:n.*754G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000420993.7:c.*754G="
          },
          "RefSeq": {
            "hgvs": "NM_152299.4:c.*754G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410088.2:n.*754G="
          },
          "RefSeq": {
            "hgvs": "NP_689512.2:n.*754G="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2689,
          "referenceAllele": "G",
          "start": 2688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "NM_001185011.2:c.*754G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001171940.1:n.*754G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3088621696",
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_005138.3:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005129.2:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395693.8:c.283C="
          },
          "RefSeq": {
            "hgvs": "NM_005138.3:c.283C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379046.4:p.Arg95="
          },
          "RefSeq": {
            "hgvs": "NP_005129.2:p.Arg95="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169109.2:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162580.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169111.2:c.283C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001162582.1:p.Arg95="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713305"
    }
  ],
  "type": "nucleotide"
}