{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1280068197",
  "communityStandardTitle": [
    "NC_000002.12:g.113121720G>T"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3213448",
        "rs": 3213448
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113121720,
          "referenceAllele": "G",
          "start": 113121719
        }
      ],
      "hgvs": [
        "NC_000002.12:g.113121720G>T",
        "CM000664.2:g.113121720G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113879297,
          "referenceAllele": "G",
          "start": 113879296
        }
      ],
      "hgvs": [
        "NC_000002.11:g.113879297G>T",
        "CM000664.1:g.113879297G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 113595768,
          "referenceAllele": "G",
          "start": 113595767
        }
      ],
      "hgvs": [
        "NC_000002.10:g.113595768G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8828,
          "referenceAllele": "G",
          "start": 8827
        }
      ],
      "hgvs": [
        "NG_021240.1:g.8828G>T",
        "LRG_188:g.8828G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003503"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 663,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 663,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000409052.6:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387210.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 322,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 322,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000696881.1:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512949.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "endIntronDirection": "+",
          "endIntronOffset": 1592,
          "referenceAllele": "G",
          "start": 195,
          "startIntronDirection": "+",
          "startIntronOffset": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000259206.9:c.73+1592G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000259206.5:n.73+1592G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 132,
          "endIntronDirection": "+",
          "endIntronOffset": 3692,
          "referenceAllele": "G",
          "start": 132,
          "startIntronDirection": "+",
          "startIntronOffset": 3691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000354115.6:c.10+3692G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000329072.3:n.10+3692G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000361779.7:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354816.3:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 433,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000409052.5:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387210.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48,
          "endIntronDirection": "+",
          "endIntronOffset": 3692,
          "referenceAllele": "G",
          "start": 48,
          "startIntronDirection": "+",
          "startIntronOffset": 3691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "ENST00000486167.1:n.48+3692G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325040"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 136,
          "endIntronDirection": "+",
          "endIntronOffset": 3692,
          "referenceAllele": "G",
          "start": 136,
          "startIntronDirection": "+",
          "startIntronOffset": 3691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_000577.4:c.10+3692G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000568.1:n.10+3692G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 199,
          "endIntronDirection": "+",
          "endIntronOffset": 1592,
          "referenceAllele": "G",
          "start": 199,
          "startIntronDirection": "+",
          "startIntronOffset": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173841.2:c.73+1592G>T",
        "LRG_188t1:c.73+1592G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776213.1:n.73+1592G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043039"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 307,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 307,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173843.2:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776215.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "XM_006712497.2:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712560.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 658,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 658,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "XM_011511121.1:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509423.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078382"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_001318914.1:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305843.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 58,
          "endIntronDirection": "+",
          "endIntronOffset": 3692,
          "referenceAllele": "G",
          "start": 58,
          "startIntronDirection": "+",
          "startIntronOffset": 3691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_000577.5:c.10+3692G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000568.1:n.10+3692G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674898"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 292,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_001318914.2:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305843.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684665"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "endIntronDirection": "+",
          "endIntronOffset": 102,
          "referenceAllele": "G",
          "start": 229,
          "startIntronDirection": "+",
          "startIntronOffset": 101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173843.3:c.-39+102G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776215.1:n.-39+102G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700655"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 121,
          "endIntronDirection": "+",
          "endIntronOffset": 1592,
          "referenceAllele": "G",
          "start": 121,
          "startIntronDirection": "+",
          "startIntronOffset": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006000",
      "geneNCBI_id": 3557,
      "geneSymbol": "IL1RN",
      "hgvs": [
        "NM_173841.3:c.73+1592G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_776213.1:n.73+1592G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729601"
    }
  ],
  "type": "nucleotide"
}