{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7538180",
  "communityStandardTitle": [
    "NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=643281[alleleid]",
        "alleleId": 643281,
        "preferredName": "NM_001363711.2(DUOX2):c.2665G>T (p.Glu889Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/649026",
        "RCV": [
          "RCV000803878",
          "RCV002495090"
        ],
        "variationId": 649026
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-45394177-C-A",
        "id": "15-45394177-C-A",
        "variant": "15:45394177 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45394177C>A?assembly=hg19",
        "id": "chr15:g.45394177C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45101979C>A?assembly=hg38",
        "id": "chr15:g.45101979C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/376983373",
        "rs": 376983373
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45394177-C-A?dataset=gnomad_r2_1",
        "id": "15-45394177-C-A",
        "variant": "15:45394177 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45101979-C-A?dataset=gnomad_r3",
        "id": "15-45101979-C-A",
        "variant": "15:45101979 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45101979-C-A?dataset=gnomad_r4",
        "id": "15-45101979-C-A",
        "variant": "15:45101979 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45101979,
          "referenceAllele": "C",
          "start": 45101978
        }
      ],
      "hgvs": [
        "NC_000015.10:g.45101979C>A",
        "CM000677.2:g.45101979C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45394177,
          "referenceAllele": "C",
          "start": 45394176
        }
      ],
      "hgvs": [
        "NC_000015.9:g.45394177C>A",
        "CM000677.1:g.45394177C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 43181469,
          "referenceAllele": "C",
          "start": 43181468
        }
      ],
      "hgvs": [
        "NC_000015.8:g.43181469C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 17183,
          "referenceAllele": "G",
          "start": 17182
        }
      ],
      "hgvs": [
        "NG_009447.1:g.17183G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001599"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2879,
          "referenceAllele": "G",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000373691.7:p.Glu889_Phe1548delinsIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752778",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000389039.11:c.2665G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.2665G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Glu889Ter"
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          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Glu889Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3051,
          "referenceAllele": "G",
          "start": 3050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.10:c.2665G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000373691.6:p.Glu889_Phe1548delinsIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4396,
          "referenceAllele": "G",
          "start": 4395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000558383.1:n.4396G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2868,
          "referenceAllele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
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      "geneSymbol": "DUOX2",
      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010364",
      "coordinates": [
        {
          "allele": "T",
          "end": 2868,
          "referenceAllele": "G",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_054799.4:p.Glu889_Phe1548delinsIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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        }
      ],
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      "geneSymbol": "DUOX2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005254478.1:p.Glu889_Phe1548delinsIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828104983",
      "coordinates": [
        {
          "allele": "T",
          "end": 2868,
          "referenceAllele": "G",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.1:c.2665G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Glu889Ter",
        "hgvsWellDefined": "NP_001350640.1:p.Glu889_Phe1548delinsIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828104983",
      "coordinates": [
        {
          "allele": "T",
          "end": 2879,
          "referenceAllele": "G",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.2:c.2665G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Glu889Ter",
        "hgvsWellDefined": "NP_001350640.1:p.Glu889_Phe1548delinsIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.2665G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.2665G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Glu889Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Glu889Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916010364",
      "coordinates": [
        {
          "allele": "T",
          "end": 2879,
          "referenceAllele": "G",
          "start": 2878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.5:c.2665G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Glu889Ter",
        "hgvsWellDefined": "NP_054799.4:p.Glu889_Phe1548delinsIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727939"
    }
  ],
  "type": "nucleotide"
}