{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2254020906",
  "communityStandardTitle": [
    "NM_000625.4(NOS2):c.110+1027A="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/16949",
        "rs": 16949
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 27797673,
          "referenceAllele": "T",
          "start": 27797672
        }
      ],
      "hgvs": [
        "NC_000017.11:g.27797673T=",
        "CM000679.2:g.27797673T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 26124699,
          "referenceAllele": "T",
          "start": 26124698
        }
      ],
      "hgvs": [
        "NC_000017.10:g.26124699T=",
        "CM000679.1:g.26124699T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 23148826,
          "referenceAllele": "T",
          "start": 23148825
        }
      ],
      "hgvs": [
        "NC_000017.9:g.23148826T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7857,
          "referenceAllele": "A",
          "start": 7856
        }
      ],
      "hgvs": [
        "NG_011470.1:g.7857A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001738"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 183,
          "endIntronDirection": "+",
          "endIntronOffset": 1027,
          "referenceAllele": "A",
          "start": 183,
          "startIntronDirection": "+",
          "startIntronOffset": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000697337.1:c.110+1027A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513259.1:n.110+1027A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 374,
          "endIntronDirection": "+",
          "endIntronOffset": 1027,
          "referenceAllele": "A",
          "start": 374,
          "startIntronDirection": "+",
          "startIntronOffset": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000313735.11:c.110+1027A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327251.6:n.110+1027A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313735.11:c.110+1027A="
          },
          "RefSeq": {
            "hgvs": "NM_000625.4:c.110+1027A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327251.6:n.110+1027A="
          },
          "RefSeq": {
            "hgvs": "NP_000616.3:n.110+1027A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 1027,
          "referenceAllele": "A",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000313735.10:c.110+1027A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327251.6:n.110+1027A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 110,
          "endIntronDirection": "+",
          "endIntronOffset": 1027,
          "referenceAllele": "A",
          "start": 110,
          "startIntronDirection": "+",
          "startIntronOffset": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "ENST00000621962.1:c.110+1027A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482291.1:n.110+1027A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 374,
          "endIntronDirection": "+",
          "endIntronOffset": 1027,
          "referenceAllele": "A",
          "start": 374,
          "startIntronDirection": "+",
          "startIntronOffset": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "NM_000625.4:c.110+1027A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000616.3:n.110+1027A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006677",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000313735.11:c.110+1027A="
          },
          "RefSeq": {
            "hgvs": "NM_000625.4:c.110+1027A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327251.6:n.110+1027A="
          },
          "RefSeq": {
            "hgvs": "NP_000616.3:n.110+1027A="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 402,
          "endIntronDirection": "+",
          "endIntronOffset": 1027,
          "referenceAllele": "A",
          "start": 402,
          "startIntronDirection": "+",
          "startIntronOffset": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524859.1:c.110+1027A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523161.1:n.110+1027A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091979"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 372,
          "endIntronDirection": "+",
          "endIntronOffset": 1027,
          "referenceAllele": "A",
          "start": 372,
          "startIntronDirection": "+",
          "startIntronOffset": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007873",
      "geneNCBI_id": 4843,
      "geneSymbol": "NOS2",
      "hgvs": [
        "XM_011524861.1:c.110+1027A="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523163.1:n.110+1027A="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091981"
    }
  ],
  "type": "nucleotide"
}