{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA117676",
  "communityStandardTitle": [
    "NM_005138.3(SCO2):c.511C>T (p.Arg171Trp)",
    "NM_152299.4(NCAPH2):c.*526G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1172785",
        "active": true,
        "id": "COSM1172785"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1172786",
        "active": true,
        "id": "COSM1172786"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20719[alleleid]",
        "alleleId": 20719,
        "preferredName": "NM_005138.3(SCO2):c.511C>T (p.Arg171Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5680",
        "RCV": [
          "RCV000006034",
          "RCV001851687"
        ],
        "variationId": 5680
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/22-50962330-G-A",
        "id": "22-50962330-G-A",
        "variant": "22:50962330 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50962330G>A?assembly=hg19",
        "id": "chr22:g.50962330G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.50523901G>A?assembly=hg38",
        "id": "chr22:g.50523901G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/28937598",
        "rs": 28937598
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50962330-G-A?dataset=gnomad_r2_1",
        "id": "22-50962330-G-A",
        "variant": "22:50962330 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50523901-G-A?dataset=gnomad_r3",
        "id": "22-50523901-G-A",
        "variant": "22:50523901 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-50523901-G-A?dataset=gnomad_r4",
        "id": "22-50523901-G-A",
        "variant": "22:50523901 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50523901,
          "referenceAllele": "G",
          "start": 50523900
        }
      ],
      "hgvs": [
        "NC_000022.11:g.50523901G>A",
        "CM000684.2:g.50523901G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 50962330,
          "referenceAllele": "G",
          "start": 50962329
        }
      ],
      "hgvs": [
        "NC_000022.10:g.50962330G>A",
        "CM000684.1:g.50962330G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "A",
          "end": 49309196,
          "referenceAllele": "G",
          "start": 49309195
        }
      ],
      "hgvs": [
        "NC_000022.9:g.49309196G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11185,
          "referenceAllele": "C",
          "start": 11184
        }
      ],
      "hgvs": [
        "NG_011860.1:g.11185C>T",
        "LRG_727:g.11185C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002037"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7539,
          "referenceAllele": "C",
          "start": 7538
        }
      ],
      "hgvs": [
        "NG_016235.1:g.7539C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20686,
          "referenceAllele": "G",
          "start": 20685
        }
      ],
      "hgvs": [
        "NG_021419.1:g.20686G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003644"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "ENST00000395693.8:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379046.4:p.Arg171Trp",
        "hgvsWellDefined": "ENSP00000379046.4:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753427",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395693.8:c.511C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005138.3:c.511C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379046.4:p.Arg171Trp"
          },
          "RefSeq": {
            "hgvs": "NP_005129.2:p.Arg171Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2458,
          "referenceAllele": "G",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "ENST00000420993.7:c.*526G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410088.2:n.*526G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000420993.7:c.*526G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152299.4:c.*526G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410088.2:n.*526G>A"
          },
          "RefSeq": {
            "hgvs": "NP_689512.2:n.*526G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 740,
          "referenceAllele": "C",
          "start": 739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "ENST00000543927.6:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444433.1:p.Arg171Trp",
        "hgvsWellDefined": "ENSP00000444433.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "hgvs": [
        "ENST00000252785.3:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000252785.3:p.Arg171Trp",
        "hgvsWellDefined": "ENSP00000252785.3:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249856"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 659,
          "referenceAllele": "C",
          "start": 658
        }
      ],
      "hgvs": [
        "ENST00000395693.7:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379046.3:p.Arg171Trp",
        "hgvsWellDefined": "ENSP00000379046.3:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "hgvs": [
        "ENST00000535425.5:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444242.1:p.Arg171Trp",
        "hgvsWellDefined": "ENSP00000444242.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "hgvs": [
        "ENST00000543927.5:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444433.1:p.Arg171Trp",
        "hgvsWellDefined": "ENSP00000444433.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364285"
    },
    {
      "@id": "http://reg.genome.network/allele/PA108866",
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169109.1:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162580.1:p.Arg171Trp",
        "hgvsWellDefined": "NP_001162580.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015144"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826059432",
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169110.1:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162581.1:p.Arg171Trp",
        "hgvsWellDefined": "NP_001162581.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826059729",
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169111.1:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162582.1:p.Arg171Trp",
        "hgvsWellDefined": "NP_001162582.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2469,
          "referenceAllele": "G",
          "start": 2468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "NM_001185011.1:c.*526G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171940.1:n.*526G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989132",
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "referenceAllele": "C",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_005138.2:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005129.2:p.Arg171Trp",
        "hgvsWellDefined": "NP_005129.2:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2466,
          "referenceAllele": "G",
          "start": 2465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "NM_152299.3:c.*526G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689512.2:n.*526G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041761"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2554,
          "referenceAllele": "G",
          "start": 2553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "XR_001755232.1:n.2554G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS601066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2458,
          "referenceAllele": "G",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "NM_152299.4:c.*526G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689512.2:n.*526G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672276",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000420993.7:c.*526G>A"
          },
          "RefSeq": {
            "hgvs": "NM_152299.4:c.*526G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000410088.2:n.*526G>A"
          },
          "RefSeq": {
            "hgvs": "NP_689512.2:n.*526G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2461,
          "referenceAllele": "G",
          "start": 2460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025071",
      "geneNCBI_id": 29781,
      "geneSymbol": "NCAPH2",
      "hgvs": [
        "NM_001185011.2:c.*526G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171940.1:n.*526G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679060"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915989132",
      "coordinates": [
        {
          "allele": "T",
          "end": 651,
          "referenceAllele": "C",
          "start": 650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_005138.3:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005129.2:p.Arg171Trp",
        "hgvsWellDefined": "NP_005129.2:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696334",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000395693.8:c.511C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005138.3:c.511C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000379046.4:p.Arg171Trp"
          },
          "RefSeq": {
            "hgvs": "NP_005129.2:p.Arg171Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA108866",
      "coordinates": [
        {
          "allele": "T",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169109.2:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162580.1:p.Arg171Trp",
        "hgvsWellDefined": "NP_001162580.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713304"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826059729",
      "coordinates": [
        {
          "allele": "T",
          "end": 681,
          "referenceAllele": "C",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010604",
      "geneNCBI_id": 9997,
      "geneSymbol": "SCO2",
      "hgvs": [
        "NM_001169111.2:c.511C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001162582.1:p.Arg171Trp",
        "hgvsWellDefined": "NP_001162582.1:p.Arg171Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713305"
    }
  ],
  "type": "nucleotide"
}