{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7537689",
  "communityStandardTitle": [
    "NM_001363711.2(DUOX2):c.3921C>T (p.Cys1307=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=754474[alleleid]",
        "alleleId": 754474,
        "preferredName": "NM_001363711.2(DUOX2):c.3921C>T (p.Cys1307=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/742270",
        "RCV": [
          "RCV000918507",
          "RCV001119289"
        ],
        "variationId": 742270
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-45388185-G-A",
        "id": "15-45388185-G-A",
        "variant": "15:45388185 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45388185G>A?assembly=hg19",
        "id": "chr15:g.45388185G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45095987G>A?assembly=hg38",
        "id": "chr15:g.45095987G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/548949995",
        "rs": 548949995
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45388185-G-A?dataset=gnomad_r2_1",
        "id": "15-45388185-G-A",
        "variant": "15:45388185 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45095987-G-A?dataset=gnomad_r3",
        "id": "15-45095987-G-A",
        "variant": "15:45095987 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45095987-G-A?dataset=gnomad_r4",
        "id": "15-45095987-G-A",
        "variant": "15:45095987 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45095987,
          "referenceAllele": "G",
          "start": 45095986
        }
      ],
      "hgvs": [
        "NC_000015.10:g.45095987G>A",
        "CM000677.2:g.45095987G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45388185,
          "referenceAllele": "G",
          "start": 45388184
        }
      ],
      "hgvs": [
        "NC_000015.9:g.45388185G>A",
        "CM000677.1:g.45388185G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 43175477,
          "referenceAllele": "G",
          "start": 43175476
        }
      ],
      "hgvs": [
        "NC_000015.8:g.43175477G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23175,
          "referenceAllele": "C",
          "start": 23174
        }
      ],
      "hgvs": [
        "NG_009447.1:g.23175C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001599"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4135,
          "referenceAllele": "C",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.11:c.3921C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373691.7:p.Cys1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.3921C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.3921C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Cys1307="
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Cys1307="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4307,
          "referenceAllele": "C",
          "start": 4306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.10:c.3921C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373691.6:p.Cys1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4124,
          "referenceAllele": "C",
          "start": 4123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000603300.1:c.3921C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475084.1:p.Cys1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829760424",
      "coordinates": [
        {
          "allele": "T",
          "end": 4124,
          "referenceAllele": "C",
          "start": 4123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.4:c.3921C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Cys1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4124,
          "referenceAllele": "C",
          "start": 4123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "XM_005254421.2:c.3921C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254478.1:p.Cys1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828105339",
      "coordinates": [
        {
          "allele": "T",
          "end": 4124,
          "referenceAllele": "C",
          "start": 4123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.1:c.3921C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Cys1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828105339",
      "coordinates": [
        {
          "allele": "T",
          "end": 4135,
          "referenceAllele": "C",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.2:c.3921C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Cys1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.3921C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.3921C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Cys1307="
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Cys1307="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829760424",
      "coordinates": [
        {
          "allele": "T",
          "end": 4135,
          "referenceAllele": "C",
          "start": 4134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.5:c.3921C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Cys1307="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727939"
    }
  ],
  "type": "nucleotide"
}