{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7177456",
  "communityStandardTitle": [
    "NM_006939.4(SOS2):c.720C>T (p.Ile240=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=956027",
        "active": true,
        "id": "COSM956027"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=956028",
        "active": true,
        "id": "COSM956028"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=504784[alleleid]",
        "alleleId": 504784,
        "preferredName": "NM_006939.4(SOS2):c.720C>T (p.Ile240=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/509579",
        "RCV": [
          "RCV000600867",
          "RCV000873801",
          "RCV002377261",
          "RCV003945487"
        ],
        "variationId": 509579
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-50649319-G-A",
        "id": "14-50649319-G-A",
        "variant": "14:50649319 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50649319G>A?assembly=hg19",
        "id": "chr14:g.50649319G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.50182601G>A?assembly=hg38",
        "id": "chr14:g.50182601G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373852615",
        "rs": 373852615
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-50649319-G-A?dataset=gnomad_r2_1",
        "id": "14-50649319-G-A",
        "variant": "14:50649319 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-50182601-G-A?dataset=gnomad_r3",
        "id": "14-50182601-G-A",
        "variant": "14:50182601 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-50182601-G-A?dataset=gnomad_r4",
        "id": "14-50182601-G-A",
        "variant": "14:50182601 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 50182601,
          "referenceAllele": "G",
          "start": 50182600
        }
      ],
      "hgvs": [
        "NC_000014.9:g.50182601G>A",
        "CM000676.2:g.50182601G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 50649319,
          "referenceAllele": "G",
          "start": 50649318
        }
      ],
      "hgvs": [
        "NC_000014.8:g.50649319G>A",
        "CM000676.1:g.50649319G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 49719069,
          "referenceAllele": "G",
          "start": 49719068
        }
      ],
      "hgvs": [
        "NC_000014.7:g.49719069G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54093,
          "referenceAllele": "C",
          "start": 54092
        }
      ],
      "hgvs": [
        "NG_051073.1:g.54093C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616873"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "ENST00000216373.10:c.720C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216373.5:p.Ile240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740306",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216373.10:c.720C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006939.4:c.720C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216373.5:p.Ile240="
          },
          "RefSeq": {
            "hgvs": "NP_008870.2:p.Ile240="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 995,
          "referenceAllele": "C",
          "start": 994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "ENST00000216373.9:c.720C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000216373.5:p.Ile240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "ENST00000543680.5:c.720C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445328.1:p.Ile240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "ENST00000556469.5:n.487C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372245"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829678176",
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "NM_006939.2:c.720C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008870.2:p.Ile240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 738,
          "referenceAllele": "C",
          "start": 737
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "XM_005268021.1:c.540C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268078.1:p.Ile180="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065590"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 858,
          "referenceAllele": "C",
          "start": 857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "XM_011537103.1:c.681C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535405.1:p.Ile227="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104073"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1315,
          "referenceAllele": "C",
          "start": 1314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "XM_011537104.1:c.720C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535406.1:p.Ile240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104074"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "endIntronDirection": "-",
          "endIntronOffset": 1185,
          "referenceAllele": "G",
          "start": 953,
          "startIntronDirection": "-",
          "startIntronOffset": 1186
        }
      ],
      "hgvs": [
        "XR_943842.1:n.954-1186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137838"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 953,
          "endIntronDirection": "-",
          "endIntronOffset": 1185,
          "referenceAllele": "G",
          "start": 953,
          "startIntronDirection": "-",
          "startIntronOffset": 1186
        }
      ],
      "hgvs": [
        "XR_943843.1:n.954-1186G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829678176",
      "coordinates": [
        {
          "allele": "T",
          "end": 1130,
          "referenceAllele": "C",
          "start": 1129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "NM_006939.3:c.720C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008870.2:p.Ile240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525438"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829678176",
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011188",
      "geneNCBI_id": 6655,
      "geneSymbol": "SOS2",
      "hgvs": [
        "NM_006939.4:c.720C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008870.2:p.Ile240="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667703",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000216373.10:c.720C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006939.4:c.720C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000216373.5:p.Ile240="
          },
          "RefSeq": {
            "hgvs": "NP_008870.2:p.Ile240="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}