{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2143106",
  "communityStandardTitle": [
    "NM_005544.3(IRS1):c.2412A>G (p.Ala804=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM442408"
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-227661043-T-C",
        "id": "2-227661043-T-C",
        "variant": "2:227661043 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.227661043T>C?assembly=hg19",
        "id": "chr2:g.227661043T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.226796327T>C?assembly=hg38",
        "id": "chr2:g.226796327T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1801123",
        "rs": 1801123
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-227661043-T-C?dataset=gnomad_r2_1",
        "id": "2-227661043-T-C",
        "variant": "2:227661043 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-226796327-T-C?dataset=gnomad_r3",
        "id": "2-226796327-T-C",
        "variant": "2:226796327 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-226796327-T-C?dataset=gnomad_r4",
        "id": "2-226796327-T-C",
        "variant": "2:226796327 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 226796327,
          "referenceAllele": "T",
          "start": 226796326
        }
      ],
      "hgvs": [
        "NC_000002.12:g.226796327T>C",
        "CM000664.2:g.226796327T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 227661043,
          "referenceAllele": "T",
          "start": 227661042
        }
      ],
      "hgvs": [
        "NC_000002.11:g.227661043T>C",
        "CM000664.1:g.227661043T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 227369287,
          "referenceAllele": "T",
          "start": 227369286
        }
      ],
      "hgvs": [
        "NC_000002.10:g.227369287T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7464,
          "referenceAllele": "A",
          "start": 7463
        }
      ],
      "hgvs": [
        "NG_015830.1:g.7464A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002862"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3494,
          "referenceAllele": "A",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006125",
      "geneNCBI_id": 3667,
      "geneSymbol": "IRS1",
      "hgvs": [
        "ENST00000305123.6:c.2412A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304895.4:p.Ala804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745172",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305123.6:c.2412A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005544.3:c.2412A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304895.4:p.Ala804="
          },
          "RefSeq": {
            "hgvs": "NP_005535.1:p.Ala804="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3433,
          "referenceAllele": "A",
          "start": 3432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006125",
      "geneNCBI_id": 3667,
      "geneSymbol": "IRS1",
      "hgvs": [
        "ENST00000305123.5:c.2412A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000304895.4:p.Ala804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255553"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066501304",
      "coordinates": [
        {
          "allele": "G",
          "end": 2464,
          "referenceAllele": "A",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006125",
      "geneNCBI_id": 3667,
      "geneSymbol": "IRS1",
      "hgvs": [
        "NM_005544.2:c.2412A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005535.1:p.Ala804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066501304",
      "coordinates": [
        {
          "allele": "G",
          "end": 3494,
          "referenceAllele": "A",
          "start": 3493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006125",
      "geneNCBI_id": 3667,
      "geneSymbol": "IRS1",
      "hgvs": [
        "NM_005544.3:c.2412A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_005535.1:p.Ala804="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305123.6:c.2412A>G"
          },
          "RefSeq": {
            "hgvs": "NM_005544.3:c.2412A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000304895.4:p.Ala804="
          },
          "RefSeq": {
            "hgvs": "NP_005535.1:p.Ala804="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}