{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346364654",
  "communityStandardTitle": [
    "NM_005633.4(SOS1):c.2098C>T (p.His700Tyr)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.39240670G>A?assembly=hg19",
        "id": "chr2:g.39240670G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.39013529G>A?assembly=hg38",
        "id": "chr2:g.39013529G>A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39013529,
          "referenceAllele": "G",
          "start": 39013528
        }
      ],
      "hgvs": [
        "NC_000002.12:g.39013529G>A",
        "CM000664.2:g.39013529G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39240670,
          "referenceAllele": "G",
          "start": 39240669
        }
      ],
      "hgvs": [
        "NC_000002.11:g.39240670G>A",
        "CM000664.1:g.39240670G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39094174,
          "referenceAllele": "G",
          "start": 39094173
        }
      ],
      "hgvs": [
        "NC_000002.10:g.39094174G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111935,
          "referenceAllele": "C",
          "start": 111934
        }
      ],
      "hgvs": [
        "NG_007530.1:g.111935C>T",
        "LRG_754:g.111935C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000685279.1:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509424.1:p.His289Tyr",
        "hgvsWellDefined": "ENSP00000509424.1:p.His289Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2319,
          "referenceAllele": "C",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000688043.1:n.2319C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "C",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000689668.1:n.2105C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 187,
          "referenceAllele": "C",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690514.1:n.187C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2004,
          "referenceAllele": "C",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690876.1:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508955.1:p.His663Tyr",
        "hgvsWellDefined": "ENSP00000508955.1:p.His663Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2004,
          "referenceAllele": "C",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000691229.1:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510437.1:p.His663Tyr",
        "hgvsWellDefined": "ENSP00000510437.1:p.His663Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2004,
          "referenceAllele": "C",
          "start": 2003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692089.1:c.1987C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508626.1:p.His663Tyr",
        "hgvsWellDefined": "ENSP00000508626.1:p.His663Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 920,
          "referenceAllele": "C",
          "start": 919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692620.1:c.865C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509311.1:p.His289Tyr",
        "hgvsWellDefined": "ENSP00000509311.1:p.His289Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2727,
          "referenceAllele": "C",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.8:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.His700Tyr",
        "hgvsWellDefined": "ENSP00000384675.2:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.2098C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.2098C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.His700Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.His700Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "C",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000395038.6:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378479.2:p.His700Tyr",
        "hgvsWellDefined": "ENSP00000378479.2:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.6:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.His700Tyr",
        "hgvsWellDefined": "ENSP00000384675.2:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2185,
          "referenceAllele": "C",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000426016.5:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387784.1:p.His700Tyr",
        "hgvsWellDefined": "ENSP00000387784.1:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3262000873",
      "coordinates": [
        {
          "allele": "T",
          "end": 2139,
          "referenceAllele": "C",
          "start": 2138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.3:c.2098C>T",
        "LRG_754t1:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.His700Tyr",
        "hgvsWellDefined": "NP_005624.2:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2158,
          "referenceAllele": "C",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.3:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.His700Tyr",
        "hgvsWellDefined": "XP_005264572.1:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "C",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533060.1:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531362.1:p.His731Tyr",
        "hgvsWellDefined": "XP_011531362.1:p.His731Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "C",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533061.1:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531363.1:p.His731Tyr",
        "hgvsWellDefined": "XP_011531363.1:p.His731Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.1:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.His693Tyr",
        "hgvsWellDefined": "XP_011531364.1:p.His693Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533063.1:c.2074C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531365.1:p.His692Tyr",
        "hgvsWellDefined": "XP_011531365.1:p.His692Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.1:c.1927C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.His643Tyr",
        "hgvsWellDefined": "XP_011531366.1:p.His643Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2206,
          "referenceAllele": "C",
          "start": 2205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533065.1:c.2191C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531367.1:p.His731Tyr",
        "hgvsWellDefined": "XP_011531367.1:p.His731Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1048,
          "referenceAllele": "C",
          "start": 1047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533066.1:c.1033C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531368.1:p.His345Tyr",
        "hgvsWellDefined": "XP_011531368.1:p.His345Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2368,
          "referenceAllele": "C",
          "start": 2367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.4:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.His700Tyr",
        "hgvsWellDefined": "XP_005264572.1:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2307,
          "referenceAllele": "C",
          "start": 2306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.2:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.His693Tyr",
        "hgvsWellDefined": "XP_011531364.1:p.His693Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2047,
          "referenceAllele": "C",
          "start": 2046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.2:c.1927C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.His643Tyr",
        "hgvsWellDefined": "XP_011531366.1:p.His643Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2216,
          "referenceAllele": "C",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382394.1:c.2077C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369323.1:p.His693Tyr",
        "hgvsWellDefined": "NP_001369323.1:p.His693Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2727,
          "referenceAllele": "C",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382395.1:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369324.1:p.His700Tyr",
        "hgvsWellDefined": "NP_001369324.1:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3262000873",
      "coordinates": [
        {
          "allele": "T",
          "end": 2727,
          "referenceAllele": "C",
          "start": 2726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.4:c.2098C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.His700Tyr",
        "hgvsWellDefined": "NP_005624.2:p.His700Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.2098C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.2098C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.His700Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.His700Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}