{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7538939",
  "communityStandardTitle": [
    "NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1943995[alleleid]",
        "alleleId": 1943995,
        "preferredName": "NM_001363711.2(DUOX2):c.506G>A (p.Arg169Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2416829",
        "RCV": [
          "RCV003109080",
          "RCV003143581"
        ],
        "variationId": 2416829
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-45403973-C-T",
        "id": "15-45403973-C-T",
        "variant": "15:45403973 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45403973C>T?assembly=hg19",
        "id": "chr15:g.45403973C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45111775C>T?assembly=hg38",
        "id": "chr15:g.45111775C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753600344",
        "rs": 753600344
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45403973-C-T?dataset=gnomad_r2_1",
        "id": "15-45403973-C-T",
        "variant": "15:45403973 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45111775-C-T?dataset=gnomad_r3",
        "id": "15-45111775-C-T",
        "variant": "15:45111775 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45111775-C-T?dataset=gnomad_r4",
        "id": "15-45111775-C-T",
        "variant": "15:45111775 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 45111775,
          "referenceAllele": "C",
          "start": 45111774
        }
      ],
      "hgvs": [
        "NC_000015.10:g.45111775C>T",
        "CM000677.2:g.45111775C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 45403973,
          "referenceAllele": "C",
          "start": 45403972
        }
      ],
      "hgvs": [
        "NC_000015.9:g.45403973C>T",
        "CM000677.1:g.45403973C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43191265,
          "referenceAllele": "C",
          "start": 43191264
        }
      ],
      "hgvs": [
        "NC_000015.8:g.43191265C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7387,
          "referenceAllele": "G",
          "start": 7386
        }
      ],
      "hgvs": [
        "NG_009447.1:g.7387G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001599"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2451,
          "referenceAllele": "C",
          "start": 2450
        }
      ],
      "hgvs": [
        "NG_016992.1:g.2451C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003358"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.11:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373691.7:p.Arg169Gln",
        "hgvsWellDefined": "ENSP00000373691.7:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.506G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.506G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Arg169Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Arg169Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 892,
          "referenceAllele": "G",
          "start": 891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.10:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373691.6:p.Arg169Gln",
        "hgvsWellDefined": "ENSP00000373691.6:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 549,
          "referenceAllele": "G",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000558383.1:n.549G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373759"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000603300.1:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475084.1:p.Arg169Gln",
        "hgvsWellDefined": "ENSP00000475084.1:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580367936",
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.4:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Arg169Gln",
        "hgvsWellDefined": "NP_054799.4:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032924"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "XM_005254421.2:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254478.1:p.Arg169Gln",
        "hgvsWellDefined": "XP_005254478.1:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828104484",
      "coordinates": [
        {
          "allele": "A",
          "end": 709,
          "referenceAllele": "G",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.1:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Arg169Gln",
        "hgvsWellDefined": "NP_001350640.1:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828104484",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.2:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Arg169Gln",
        "hgvsWellDefined": "NP_001350640.1:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.506G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.506G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Arg169Gln"
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Arg169Gln"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580367936",
      "coordinates": [
        {
          "allele": "A",
          "end": 720,
          "referenceAllele": "G",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.5:c.506G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Arg169Gln",
        "hgvsWellDefined": "NP_054799.4:p.Arg169Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727939"
    }
  ],
  "type": "nucleotide"
}