{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1029589204",
  "communityStandardTitle": [
    "NM_005633.4(SOS1):c.2167+18G>T"
  ],
  "externalRecords": {
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-39013442-C-A?dataset=gnomad_r4",
        "id": "2-39013442-C-A",
        "variant": "2:39013442 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39013442,
          "referenceAllele": "C",
          "start": 39013441
        }
      ],
      "hgvs": [
        "NC_000002.12:g.39013442C>A",
        "CM000664.2:g.39013442C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39240583,
          "referenceAllele": "C",
          "start": 39240582
        }
      ],
      "hgvs": [
        "NC_000002.11:g.39240583C>A",
        "CM000664.1:g.39240583C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 39094087,
          "referenceAllele": "C",
          "start": 39094086
        }
      ],
      "hgvs": [
        "NC_000002.10:g.39094087C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 112022,
          "referenceAllele": "G",
          "start": 112021
        }
      ],
      "hgvs": [
        "NG_007530.1:g.112022G>T",
        "LRG_754:g.112022G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000685279.1:c.934+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509424.1:n.934+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829984"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2406,
          "referenceAllele": "G",
          "start": 2405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000688043.1:n.2406G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2174,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2174,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000689668.1:n.2174+18G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832291"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 256,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690514.1:n.256+18G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2073,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2073,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690876.1:c.2056+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508955.1:n.2056+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2073,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2073,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000691229.1:c.2056+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510437.1:n.2056+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2073,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2073,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692089.1:c.2056+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508626.1:n.2056+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 989,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 989,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692620.1:c.934+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509311.1:n.934+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2796,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2796,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.8:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.2167+18G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.2167+18G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:n.2167+18G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:n.2167+18G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2195,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2195,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000395038.6:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378479.2:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2208,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2208,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.6:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2254,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000426016.5:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387784.1:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2208,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2208,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.3:c.2167+18G>T",
        "LRG_754t1:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2227,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2227,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.3:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2275,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2275,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533060.1:c.2260+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531362.1:n.2260+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2275,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2275,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533061.1:c.2260+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531363.1:n.2260+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100087"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2161,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2161,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.1:c.2146+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:n.2146+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2497,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2497,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533063.1:c.2143+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531365.1:n.2143+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2116,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2116,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.1:c.1996+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:n.1996+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2275,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2275,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533065.1:c.2260+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531367.1:n.2260+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100091"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1117,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 1117,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533066.1:c.1102+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531368.1:n.1102+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100092"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2437,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.4:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2376,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2376,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.2:c.2146+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:n.2146+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551097"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2116,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2116,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.2:c.1996+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:n.1996+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551098"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2285,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2285,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382394.1:c.2146+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369323.1:n.2146+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2796,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2796,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382395.1:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369324.1:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2796,
          "endIntronDirection": "+",
          "endIntronOffset": 18,
          "referenceAllele": "G",
          "start": 2796,
          "startIntronDirection": "+",
          "startIntronOffset": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.4:c.2167+18G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:n.2167+18G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.2167+18G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.2167+18G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:n.2167+18G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:n.2167+18G>T"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}