{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA273441",
  "communityStandardTitle": [
    "NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3372774",
        "active": true,
        "id": "COSM3372774"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=49143[alleleid]",
        "alleleId": 49143,
        "preferredName": "NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/40673",
        "RCV": [
          "RCV000154314",
          "RCV000159166",
          "RCV000534974",
          "RCV002467511"
        ],
        "variationId": 40673
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.39250247C>T?assembly=hg19",
        "id": "chr2:g.39250247C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.39023106C>T?assembly=hg38",
        "id": "chr2:g.39023106C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/727504295",
        "rs": 727504295
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-39023106-C-T?dataset=gnomad_r4",
        "id": "2-39023106-C-T",
        "variant": "2:39023106 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 39023106,
          "referenceAllele": "C",
          "start": 39023105
        }
      ],
      "hgvs": [
        "NC_000002.12:g.39023106C>T",
        "CM000664.2:g.39023106C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 39250247,
          "referenceAllele": "C",
          "start": 39250246
        }
      ],
      "hgvs": [
        "NC_000002.11:g.39250247C>T",
        "CM000664.1:g.39250247C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 39103751,
          "referenceAllele": "C",
          "start": 39103750
        }
      ],
      "hgvs": [
        "NC_000002.10:g.39103751C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 102358,
          "referenceAllele": "G",
          "start": 102357
        }
      ],
      "hgvs": [
        "NG_007530.1:g.102358G>A",
        "LRG_754:g.102358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000638"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1202,
          "referenceAllele": "G",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000472480.2:n.1202G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825231"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000685279.1:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509424.1:p.Cys30Tyr",
        "hgvsWellDefined": "ENSP00000509424.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1543,
          "referenceAllele": "G",
          "start": 1542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000688043.1:n.1543G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1329,
          "referenceAllele": "G",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000689668.1:n.1329G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832291"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000690876.1:c.1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508955.1:p.Cys404Tyr",
        "hgvsWellDefined": "ENSP00000508955.1:p.Cys404Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832921"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000691229.1:c.1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510437.1:p.Cys404Tyr",
        "hgvsWellDefined": "ENSP00000510437.1:p.Cys404Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833111"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1228,
          "referenceAllele": "G",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692089.1:c.1211G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508626.1:p.Cys404Tyr",
        "hgvsWellDefined": "ENSP00000508626.1:p.Cys404Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "referenceAllele": "G",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000692620.1:c.89G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509311.1:p.Cys30Tyr",
        "hgvsWellDefined": "ENSP00000509311.1:p.Cys30Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833795"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.8:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.Cys441Tyr",
        "hgvsWellDefined": "ENSP00000384675.2:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753994",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.1322G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.1322G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.Cys441Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.Cys441Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1350,
          "referenceAllele": "G",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000395038.6:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378479.2:p.Cys441Tyr",
        "hgvsWellDefined": "ENSP00000378479.2:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276482"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000402219.6:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384675.2:p.Cys441Tyr",
        "hgvsWellDefined": "ENSP00000384675.2:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1409,
          "referenceAllele": "G",
          "start": 1408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000426016.5:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387784.1:p.Cys441Tyr",
        "hgvsWellDefined": "ENSP00000387784.1:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 166,
          "referenceAllele": "G",
          "start": 165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "ENST00000472480.1:n.166G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS314437"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104856",
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.3:c.1322G>A",
        "LRG_754t1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.Cys441Tyr",
        "hgvsWellDefined": "NP_005624.2:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1382,
          "referenceAllele": "G",
          "start": 1381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.3:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.Cys441Tyr",
        "hgvsWellDefined": "XP_005264572.1:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064265"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533060.1:c.1415G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531362.1:p.Cys472Tyr",
        "hgvsWellDefined": "XP_011531362.1:p.Cys472Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100086"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533061.1:c.1415G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531363.1:p.Cys472Tyr",
        "hgvsWellDefined": "XP_011531363.1:p.Cys472Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1316,
          "referenceAllele": "G",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.1:c.1301G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.Cys434Tyr",
        "hgvsWellDefined": "XP_011531364.1:p.Cys434Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1652,
          "referenceAllele": "G",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533063.1:c.1298G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531365.1:p.Cys433Tyr",
        "hgvsWellDefined": "XP_011531365.1:p.Cys433Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.1:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.Cys384Tyr",
        "hgvsWellDefined": "XP_011531366.1:p.Cys384Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1430,
          "referenceAllele": "G",
          "start": 1429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533065.1:c.1415G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531367.1:p.Cys472Tyr",
        "hgvsWellDefined": "XP_011531367.1:p.Cys472Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 272,
          "referenceAllele": "G",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533066.1:c.257G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531368.1:p.Cys86Tyr",
        "hgvsWellDefined": "XP_011531368.1:p.Cys86Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1592,
          "referenceAllele": "G",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_005264515.4:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264572.1:p.Cys441Tyr",
        "hgvsWellDefined": "XP_005264572.1:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1531,
          "referenceAllele": "G",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533062.2:c.1301G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531364.1:p.Cys434Tyr",
        "hgvsWellDefined": "XP_011531364.1:p.Cys434Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551097"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "XM_011533064.2:c.1151G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531366.1:p.Cys384Tyr",
        "hgvsWellDefined": "XP_011531366.1:p.Cys384Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828893349",
      "coordinates": [
        {
          "allele": "A",
          "end": 1440,
          "referenceAllele": "G",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382394.1:c.1301G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369323.1:p.Cys434Tyr",
        "hgvsWellDefined": "NP_001369323.1:p.Cys434Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828894534",
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_001382395.1:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001369324.1:p.Cys441Tyr",
        "hgvsWellDefined": "NP_001369324.1:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS722323"
    },
    {
      "@id": "http://reg.genome.network/allele/PA104856",
      "coordinates": [
        {
          "allele": "A",
          "end": 1951,
          "referenceAllele": "G",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011187",
      "geneNCBI_id": 6654,
      "geneSymbol": "SOS1",
      "hgvs": [
        "NM_005633.4:c.1322G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005624.2:p.Cys441Tyr",
        "hgvsWellDefined": "NP_005624.2:p.Cys441Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727653",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402219.8:c.1322G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005633.4:c.1322G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000384675.2:p.Cys441Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_005624.2:p.Cys441Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}