{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA14486408",
  "communityStandardTitle": [
    "NM_000625.4(NOS2):c.1005-593T>C"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.26106675A>G?assembly=hg19",
        "id": "chr17:g.26106675A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.27779649A>G?assembly=hg38",
        "id": "chr17:g.27779649A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/4795067",
        "rs": 4795067
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-26106675-A-G?dataset=gnomad_r2_1",
        "id": "17-26106675-A-G",
        "variant": "17:26106675 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-27779649-A-G?dataset=gnomad_r3",
        "id": "17-27779649-A-G",
        "variant": "17:27779649 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-27779649-A-G?dataset=gnomad_r4",
        "id": "17-27779649-A-G",
        "variant": "17:27779649 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 27779649,
          "referenceAllele": "A",
          "start": 27779648
        }
      ],
      "hgvs": [
        "NC_000017.11:g.27779649A>G",
        "CM000679.2:g.27779649A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 26106675,
          "referenceAllele": "A",
          "start": 26106674
        }
      ],
      "hgvs": [
        "NC_000017.10:g.26106675A>G",
        "CM000679.1:g.26106675A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "G",
          "end": 23130802,
          "referenceAllele": "A",
          "start": 23130801
        }
      ],
      "hgvs": [
        "NC_000017.9:g.23130802A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 25881,
          "referenceAllele": "T",
          "start": 25880
        }
      ],
      "hgvs": [
        "NG_011470.1:g.25881T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001738"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 928,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 928,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697337.1:c.*451-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513259.1:n.*451-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908708"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 852,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 852,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697338.1:c.853-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513260.1:n.853-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908709"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 315,
          "endIntronDirection": "-",
          "endIntronOffset": 5197,
          "referenceAllele": "T",
          "start": 315,
          "startIntronDirection": "-",
          "startIntronOffset": 5198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697339.1:c.316-5198T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513261.1:n.316-5198T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908710"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1060,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1060,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697340.1:c.1002-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513262.1:n.1002-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 974,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 974,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697341.1:n.975-593T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908712"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1268,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000313735.11:c.1005-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327251.6:n.1005-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313735.11:c.1005-593T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000625.4:c.1005-593T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327251.6:n.1005-593T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000616.3:n.1005-593T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1087,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1087,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000646938.1:c.1002-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494870.1:n.1002-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769148"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1238,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1238,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000313735.10:c.1005-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327251.6:n.1005-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256862"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 887,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 887,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000621962.1:c.888-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482291.1:n.888-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1268,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1268,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "NM_000625.4:c.1005-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000616.3:n.1005-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313735.11:c.1005-593T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000625.4:c.1005-593T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327251.6:n.1005-593T>C"
          },
          "RefSeq": {
            "hgvs": "NP_000616.3:n.1005-593T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1296,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1296,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524859.1:c.1005-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523161.1:n.1005-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1021,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1021,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524860.1:c.1002-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523162.1:n.1002-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1266,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 1266,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524861.1:c.1005-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523163.1:n.1005-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 865,
          "endIntronDirection": "-",
          "endIntronOffset": 592,
          "referenceAllele": "T",
          "start": 865,
          "startIntronDirection": "-",
          "startIntronOffset": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524862.1:c.339-593T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523164.1:n.339-593T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091982"
    }
  ],
  "type": "nucleotide"
}