{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346364657",
  "communityStandardTitle": [
    "NM_005633.4(SOS1):c.2097C>G (p.His699Gln)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.39240671G>C?assembly=hg19",
        "id": "chr2:g.39240671G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.39013530G>C?assembly=hg38",
        "id": "chr2:g.39013530G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 39013530,
          "referenceAllele": "G",
          "start": 39013529
        }
      ],
      "hgvs": [
        "NC_000002.12:g.39013530G>C",
        "CM000664.2:g.39013530G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 39240671,
          "referenceAllele": "G",
          "start": 39240670
        }
      ],
      "hgvs": [
        "NC_000002.11:g.39240671G>C",
        "CM000664.1:g.39240671G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 39094175,
          "referenceAllele": "G",
          "start": 39094174
        }
      ],
      "hgvs": [
        "NC_000002.10:g.39094175G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111934,
          "referenceAllele": "C",
          "start": 111933
        }
      ],
      "hgvs": [
        "NG_007530.1:g.111934C>G",
        "LRG_754:g.111934C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 931,
          "referenceAllele": "C",
          "start": 930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000685279.1:c.864C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509424.1:p.His288Gln",
        "hgvsWellDefined": "ENSP00000509424.1:p.His288Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2318,
          "referenceAllele": "C",
          "start": 2317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000688043.1:n.2318C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831408"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2104,
          "referenceAllele": "C",
          "start": 2103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000689668.1:n.2104C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832291"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 186,
          "referenceAllele": "C",
          "start": 185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690514.1:n.186C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690876.1:c.1986C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508955.1:p.His662Gln",
        "hgvsWellDefined": "ENSP00000508955.1:p.His662Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832921"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000691229.1:c.1986C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510437.1:p.His662Gln",
        "hgvsWellDefined": "ENSP00000510437.1:p.His662Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2003,
          "referenceAllele": "C",
          "start": 2002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692089.1:c.1986C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508626.1:p.His662Gln",
        "hgvsWellDefined": "ENSP00000508626.1:p.His662Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833539"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692620.1:c.864C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509311.1:p.His288Gln",
        "hgvsWellDefined": "ENSP00000509311.1:p.His288Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833795"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2726,
          "referenceAllele": "C",
          "start": 2725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.8:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.His699Gln",
        "hgvsWellDefined": "ENSP00000384675.2:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.2097C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.2097C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.His699Gln"
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.His699Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2125,
          "referenceAllele": "C",
          "start": 2124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000395038.6:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378479.2:p.His699Gln",
        "hgvsWellDefined": "ENSP00000378479.2:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276482"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.6:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.His699Gln",
        "hgvsWellDefined": "ENSP00000384675.2:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279442"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2184,
          "referenceAllele": "C",
          "start": 2183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000426016.5:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387784.1:p.His699Gln",
        "hgvsWellDefined": "ENSP00000387784.1:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891852186",
      "coordinates": [
        {
          "allele": "G",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.3:c.2097C>G",
        "LRG_754t1:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.His699Gln",
        "hgvsWellDefined": "NP_005624.2:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2157,
          "referenceAllele": "C",
          "start": 2156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.3:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.His699Gln",
        "hgvsWellDefined": "XP_005264572.1:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064265"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "C",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533060.1:c.2190C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531362.1:p.His730Gln",
        "hgvsWellDefined": "XP_011531362.1:p.His730Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "C",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533061.1:c.2190C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531363.1:p.His730Gln",
        "hgvsWellDefined": "XP_011531363.1:p.His730Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100087"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2091,
          "referenceAllele": "C",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.1:c.2076C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.His692Gln",
        "hgvsWellDefined": "XP_011531364.1:p.His692Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100088"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2427,
          "referenceAllele": "C",
          "start": 2426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533063.1:c.2073C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531365.1:p.His691Gln",
        "hgvsWellDefined": "XP_011531365.1:p.His691Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100089"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.1:c.1926C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.His642Gln",
        "hgvsWellDefined": "XP_011531366.1:p.His642Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100090"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2205,
          "referenceAllele": "C",
          "start": 2204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533065.1:c.2190C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531367.1:p.His730Gln",
        "hgvsWellDefined": "XP_011531367.1:p.His730Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100091"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533066.1:c.1032C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531368.1:p.His344Gln",
        "hgvsWellDefined": "XP_011531368.1:p.His344Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100092"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2367,
          "referenceAllele": "C",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.4:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.His699Gln",
        "hgvsWellDefined": "XP_005264572.1:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2306,
          "referenceAllele": "C",
          "start": 2305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.2:c.2076C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.His692Gln",
        "hgvsWellDefined": "XP_011531364.1:p.His692Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551097"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2046,
          "referenceAllele": "C",
          "start": 2045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.2:c.1926C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.His642Gln",
        "hgvsWellDefined": "XP_011531366.1:p.His642Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828893589",
      "coordinates": [
        {
          "allele": "G",
          "end": 2215,
          "referenceAllele": "C",
          "start": 2214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382394.1:c.2076C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369323.1:p.His692Gln",
        "hgvsWellDefined": "NP_001369323.1:p.His692Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828894775",
      "coordinates": [
        {
          "allele": "G",
          "end": 2726,
          "referenceAllele": "C",
          "start": 2725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382395.1:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369324.1:p.His699Gln",
        "hgvsWellDefined": "NP_001369324.1:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891852186",
      "coordinates": [
        {
          "allele": "G",
          "end": 2726,
          "referenceAllele": "C",
          "start": 2725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.4:c.2097C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.His699Gln",
        "hgvsWellDefined": "NP_005624.2:p.His699Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.2097C>G"
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.2097C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.His699Gln"
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.His699Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}