{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2396095243",
  "communityStandardTitle": [
    "NM_006440.5(TXNRD2):c.663-3234C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3788317",
        "rs": 3788317
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 19902302,
          "referenceAllele": "G",
          "start": 19902301
        }
      ],
      "hgvs": [
        "NC_000022.11:g.19902302G=",
        "CM000684.2:g.19902302G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 19889825,
          "referenceAllele": "G",
          "start": 19889824
        }
      ],
      "hgvs": [
        "NC_000022.10:g.19889825G=",
        "CM000684.1:g.19889825G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 18269825,
          "referenceAllele": "G",
          "start": 18269824
        }
      ],
      "hgvs": [
        "NC_000022.9:g.18269825G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 44535,
          "referenceAllele": "C",
          "start": 44534
        }
      ],
      "hgvs": [
        "NG_011835.1:g.44535C=",
        "LRG_417:g.44535C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002015"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 677,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000400521.7:c.663-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383365.1:n.663-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400521.7:c.663-3234C="
          },
          "RefSeq": {
            "hgvs": "NM_006440.5:c.663-3234C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000383365.1:n.663-3234C="
          },
          "RefSeq": {
            "hgvs": "NP_006431.2:n.663-3234C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 663,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 663,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000334363.14:c.663-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000334451.9:n.663-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000400518.5:c.573-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383362.1:n.573-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279054"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 659,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 659,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000400519.6:c.660-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383363.1:n.660-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279055"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 851,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000400521.6:c.663-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383365.1:n.663-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279057"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 610,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 610,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000400525.6:c.594-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383369.3:n.594-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279059"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 609,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 609,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000474308.5:c.606-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485665.1:n.606-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315849"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 159,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 159,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000475995.3:c.160-3234C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000491939.6:c.567-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485543.1:n.567-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 736,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 736,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000494454.5:n.737-3234C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000542719.6:c.375-3234C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485128.2:n.375-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS363615"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 248,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 248,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "ENST00000635155.1:n.249-3234C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS408046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 851,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001282512.1:c.663-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269441.1:n.663-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS022005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 851,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_006440.4:c.663-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006431.2:n.663-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031454"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 851,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 851,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001282512.2:c.663-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269441.1:n.663-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS512104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 848,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 848,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001352300.1:c.660-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339229.1:n.660-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520770"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001352301.1:c.573-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339230.1:n.573-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520771"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001352302.1:c.375-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339231.1:n.375-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520772"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001352303.1:c.567-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339232.1:n.567-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS520773"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 794,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 794,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NR_147957.1:n.795-3234C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530936"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 677,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_006440.5:c.663-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006431.2:n.663-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667464",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000400521.7:c.663-3234C="
          },
          "RefSeq": {
            "hgvs": "NM_006440.5:c.663-3234C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000383365.1:n.663-3234C="
          },
          "RefSeq": {
            "hgvs": "NP_006431.2:n.663-3234C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 677,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 677,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001282512.3:c.663-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001269441.1:n.663-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681805"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 674,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 674,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001352300.2:c.660-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339229.1:n.660-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689154"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 620,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 620,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NR_147957.2:n.621-3234C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704629"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001352301.2:c.573-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339230.1:n.573-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 756,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 756,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001352302.2:c.375-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339231.1:n.375-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720038"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 652,
          "endIntronDirection": "-",
          "endIntronOffset": 3233,
          "referenceAllele": "C",
          "start": 652,
          "startIntronDirection": "-",
          "startIntronOffset": 3234
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018155",
      "geneNCBI_id": 10587,
      "geneSymbol": "TXNRD2",
      "hgvs": [
        "NM_001352303.2:c.567-3234C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001339232.1:n.567-3234C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720039"
    }
  ],
  "type": "nucleotide"
}