{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8454610",
  "communityStandardTitle": [
    "NM_000625.4(NOS2):c.1823C>T (p.Ser608Leu)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM4000073"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2849265[alleleid]",
        "alleleId": 2849265,
        "preferredName": "NM_000625.4(NOS2):c.1823C>T (p.Ser608Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2688228",
        "RCV": [
          "RCV003489137",
          "RCV003980962"
        ],
        "variationId": 2688228
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-26096597-G-A",
        "id": "17-26096597-G-A",
        "variant": "17:26096597 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.26096597G>A?assembly=hg19",
        "id": "chr17:g.26096597G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.27769571G>A?assembly=hg38",
        "id": "chr17:g.27769571G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2297518",
        "rs": 2297518
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-26096597-G-A?dataset=gnomad_r2_1",
        "id": "17-26096597-G-A",
        "variant": "17:26096597 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-27769571-G-A?dataset=gnomad_r3",
        "id": "17-27769571-G-A",
        "variant": "17:27769571 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-27769571-G-A?dataset=gnomad_r4",
        "id": "17-27769571-G-A",
        "variant": "17:27769571 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 27769571,
          "referenceAllele": "G",
          "start": 27769570
        }
      ],
      "hgvs": [
        "NC_000017.11:g.27769571G>A",
        "CM000679.2:g.27769571G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 26096597,
          "referenceAllele": "G",
          "start": 26096596
        }
      ],
      "hgvs": [
        "NC_000017.10:g.26096597G>A",
        "CM000679.1:g.26096597G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 23120724,
          "referenceAllele": "G",
          "start": 23120723
        }
      ],
      "hgvs": [
        "NC_000017.9:g.23120724G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 35959,
          "referenceAllele": "C",
          "start": 35958
        }
      ],
      "hgvs": [
        "NG_011470.1:g.35959C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001738"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "referenceAllele": "C",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697337.1:c.*2559C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513259.1:n.*2559C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697338.1:c.1671C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513260.1:n.1671C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697339.1:c.857C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513261.1:p.Ser286Leu",
        "hgvsWellDefined": "ENSP00000513261.1:p.Ser286Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697340.1:c.*540C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513262.1:n.*540C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1793,
          "referenceAllele": "C",
          "start": 1792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697341.1:n.1793C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS908712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000313735.11:c.1823C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327251.6:p.Ser608Leu",
        "hgvsWellDefined": "ENSP00000327251.6:p.Ser608Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313735.11:c.1823C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000625.4:c.1823C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327251.6:p.Ser608Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000616.3:p.Ser608Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000646938.1:c.1820C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494870.1:p.Ser607Leu",
        "hgvsWellDefined": "ENSP00000494870.1:p.Ser607Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2057,
          "referenceAllele": "C",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000313735.10:c.1823C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327251.6:p.Ser608Leu",
        "hgvsWellDefined": "ENSP00000327251.6:p.Ser608Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256862"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1706,
          "referenceAllele": "C",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000621962.1:c.1706C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482291.1:p.Ser569Leu",
        "hgvsWellDefined": "ENSP00000482291.1:p.Ser569Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741819307",
      "coordinates": [
        {
          "allele": "T",
          "end": 2087,
          "referenceAllele": "C",
          "start": 2086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "NM_000625.4:c.1823C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000616.3:p.Ser608Leu",
        "hgvsWellDefined": "NP_000616.3:p.Ser608Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313735.11:c.1823C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000625.4:c.1823C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327251.6:p.Ser608Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000616.3:p.Ser608Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2115,
          "referenceAllele": "C",
          "start": 2114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524859.1:c.1823C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523161.1:p.Ser608Leu",
        "hgvsWellDefined": "XP_011523161.1:p.Ser608Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1840,
          "referenceAllele": "C",
          "start": 1839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524860.1:c.1820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523162.1:p.Ser607Leu",
        "hgvsWellDefined": "XP_011523162.1:p.Ser607Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2085,
          "referenceAllele": "C",
          "start": 2084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524861.1:c.1823C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523163.1:p.Ser608Leu",
        "hgvsWellDefined": "XP_011523163.1:p.Ser608Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1684,
          "referenceAllele": "C",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524862.1:c.1157C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523164.1:p.Ser386Leu",
        "hgvsWellDefined": "XP_011523164.1:p.Ser386Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091982"
    }
  ],
  "type": "nucleotide"
}