{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1246131886",
  "communityStandardTitle": [
    "NM_005633.4(SOS1):c.2104T= (p.Tyr702=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727505381",
        "rs": 727505381
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39013523,
          "referenceAllele": "A",
          "start": 39013522
        }
      ],
      "hgvs": [
        "NC_000002.12:g.39013523A=",
        "CM000664.2:g.39013523A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39240664,
          "referenceAllele": "A",
          "start": 39240663
        }
      ],
      "hgvs": [
        "NC_000002.11:g.39240664A=",
        "CM000664.1:g.39240664A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39094168,
          "referenceAllele": "A",
          "start": 39094167
        }
      ],
      "hgvs": [
        "NC_000002.10:g.39094168A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111941,
          "referenceAllele": "T",
          "start": 111940
        }
      ],
      "hgvs": [
        "NG_007530.1:g.111941T=",
        "LRG_754:g.111941T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "T",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000685279.1:c.871T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509424.1:p.Tyr291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2325,
          "referenceAllele": "T",
          "start": 2324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000688043.1:n.2325T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2111,
          "referenceAllele": "T",
          "start": 2110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000689668.1:n.2111T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 193,
          "referenceAllele": "T",
          "start": 192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690514.1:n.193T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2010,
          "referenceAllele": "T",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690876.1:c.1993T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508955.1:p.Tyr665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2010,
          "referenceAllele": "T",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000691229.1:c.1993T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510437.1:p.Tyr665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2010,
          "referenceAllele": "T",
          "start": 2009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692089.1:c.1993T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508626.1:p.Tyr665="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 926,
          "referenceAllele": "T",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692620.1:c.871T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509311.1:p.Tyr291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "referenceAllele": "T",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.8:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.2104T="
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.2104T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.Tyr702="
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.Tyr702="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2132,
          "referenceAllele": "T",
          "start": 2131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000395038.6:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378479.2:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2145,
          "referenceAllele": "T",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.6:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "T",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000426016.5:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387784.1:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066722145",
      "coordinates": [
        {
          "allele": "T",
          "end": 2145,
          "referenceAllele": "T",
          "start": 2144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.3:c.2104T=",
        "LRG_754t1:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2164,
          "referenceAllele": "T",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.3:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2212,
          "referenceAllele": "T",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533060.1:c.2197T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531362.1:p.Tyr733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2212,
          "referenceAllele": "T",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533061.1:c.2197T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531363.1:p.Tyr733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "T",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.1:c.2083T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.Tyr695="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "T",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533063.1:c.2080T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531365.1:p.Tyr694="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2053,
          "referenceAllele": "T",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.1:c.1933T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.Tyr645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2212,
          "referenceAllele": "T",
          "start": 2211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533065.1:c.2197T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531367.1:p.Tyr733="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "referenceAllele": "T",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533066.1:c.1039T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531368.1:p.Tyr347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2374,
          "referenceAllele": "T",
          "start": 2373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.4:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "referenceAllele": "T",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.2:c.2083T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.Tyr695="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2053,
          "referenceAllele": "T",
          "start": 2052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.2:c.1933T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.Tyr645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2222,
          "referenceAllele": "T",
          "start": 2221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382394.1:c.2083T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369323.1:p.Tyr695="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "referenceAllele": "T",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382395.1:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001369324.1:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066722145",
      "coordinates": [
        {
          "allele": "T",
          "end": 2733,
          "referenceAllele": "T",
          "start": 2732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.4:c.2104T="
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.Tyr702="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.2104T="
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.2104T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.Tyr702="
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.Tyr702="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}