{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA392269717",
  "communityStandardTitle": [
    "NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2749112[alleleid]",
        "alleleId": 2749112,
        "preferredName": "NM_001363711.2(DUOX2):c.2428G>T (p.Glu810Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2581533",
        "RCV": [
          "RCV003331938",
          "RCV003561307"
        ],
        "variationId": 2581533
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45396470C>A?assembly=hg19",
        "id": "chr15:g.45396470C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.45104272C>A?assembly=hg38",
        "id": "chr15:g.45104272C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/375229316",
        "rs": 375229316
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-45104272-C-A?dataset=gnomad_r4",
        "id": "15-45104272-C-A",
        "variant": "15:45104272 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 45104272,
          "referenceAllele": "C",
          "start": 45104271
        }
      ],
      "hgvs": [
        "NC_000015.10:g.45104272C>A",
        "CM000677.2:g.45104272C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
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          "end": 45396470,
          "referenceAllele": "C",
          "start": 45396469
        }
      ],
      "hgvs": [
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        "CM000677.1:g.45396470C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 43183762,
          "referenceAllele": "C",
          "start": 43183761
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
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          "end": 14890,
          "referenceAllele": "G",
          "start": 14889
        }
      ],
      "hgvs": [
        "NG_009447.1:g.14890G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001599"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 2641
        }
      ],
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      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.11:c.2428G>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752778",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.2428G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.2428G>T"
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        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Glu810Ter"
          }
        }
      }
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    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2814,
          "referenceAllele": "G",
          "start": 2813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000389039.10:c.2428G>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4159,
          "referenceAllele": "G",
          "start": 4158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000558383.1:n.4159G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2631,
          "referenceAllele": "G",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "ENST00000603300.1:c.2428G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000475084.1:p.Glu810Ter",
        "hgvsWellDefined": "ENSP00000475084.1:p.Glu810_Phe1548delinsPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398565"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741941041",
      "coordinates": [
        {
          "allele": "T",
          "end": 2631,
          "referenceAllele": "G",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.4:c.2428G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Glu810Ter",
        "hgvsWellDefined": "NP_054799.4:p.Glu810_Phe1548delinsPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032924"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "XM_005254421.2:c.2428G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254478.1:p.Glu810Ter",
        "hgvsWellDefined": "XP_005254478.1:p.Glu810_Phe1548delinsPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060618"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828104925",
      "coordinates": [
        {
          "allele": "T",
          "end": 2631,
          "referenceAllele": "G",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.1:c.2428G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Glu810Ter",
        "hgvsWellDefined": "NP_001350640.1:p.Glu810_Phe1548delinsPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828104925",
      "coordinates": [
        {
          "allele": "T",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_001363711.2:c.2428G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350640.1:p.Glu810Ter",
        "hgvsWellDefined": "NP_001350640.1:p.Glu810_Phe1548delinsPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690750",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389039.11:c.2428G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363711.2:c.2428G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373691.7:p.Glu810Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001350640.1:p.Glu810Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741941041",
      "coordinates": [
        {
          "allele": "T",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013273",
      "geneNCBI_id": 50506,
      "geneSymbol": "DUOX2",
      "hgvs": [
        "NM_014080.5:c.2428G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054799.4:p.Glu810Ter",
        "hgvsWellDefined": "NP_054799.4:p.Glu810_Phe1548delinsPheAlaGluSerLeuGlyLeuLysProGlnAspMetPheValGluSerMetPheSerLeuAlaAspLysAspGlyAsnGlyTyrLeuSerPheArgGluPheLeuAspIleLeuValValPheMetLysGlySerProGluAspLysSerArgLeuMetPheThrMetTyrAspLeuAspGluAsnGlyPheLeuSerLysAspGluPhePheThrMetMetArgSerPheIleGluIleSerAsnAsnCysLeuSerLysAlaGlnLeuAlaGluValValGluSerMetPheArgGluSerGlyPheGlnAspLysGluGluLeuThrTrpGluAspPheHisPheMetLeuArgAspHisAspSerGluLeuArgPheThrGlnLeuCysValLysGlyGlyGlyGlyGlyGlyAsnGlyIleArgAspIlePheLysGlnAsnIleSerCysArgValSerPheIleThrArgThrProGlyGluArgSerHisProGlnGlyLeuGlyProProAlaProGluAlaProGluLeuGlyGlyProGlyLeuLysLysArgPheGlyLysLysAlaAlaValProThrProArgLeuTyrThrGluAlaLeuGlnGluLysMetGlnArgGlyPheLeuAlaGlnLysLeuGlnGlnTyrLysArgPheValGluAsnTyrArgArgHisIleValCysValAlaIlePheSerAlaIleCysValGlyValPheAlaAspArgAlaTyrTyrTyrGlyPheAlaSerProProSerAspIleAlaGlnThrThrLeuValGlyIleIleLeuSerArgGlyThrAlaAlaSerValSerPheMetPheSerTyrIleLeuLeuThrMetCysArgAsnLeuIleThrPheLeuArgGluThrPheLeuAsnArgTyrValProPheAspAlaAlaValAspPheHisArgTrpIleAlaMetAlaAlaValValLeuAlaIleLeuHisSerAlaGlyHisAlaValAsnValTyrIlePheSerValSerProLeuSerLeuLeuAlaCysIlePheProAsnValPheValAsnAspGlySerLysLeuProGlnLysPheTyrTrpTrpPhePheGlnThrValProGlyMetThrGlyValLeuLeuLeuLeuValLeuAlaIleMetTyrValPheAlaSerHisHisPheArgArgArgSerPheArgGlyPheTrpLeuThrHisHisLeuTyrIleLeuLeuTyrAlaLeuLeuIleIleHisGlySerTyrAlaLeuIleGlnLeuProThrPheHisIleTyrPheLeuValProAlaIleIleTyrGlyGlyAspLysLeuValSerLeuSerArgLysLysValGluIleSerValValLysAlaGluLeuLeuProSerGlyValThrTyrLeuGlnPheGlnArgProGlnGlyPheGluTyrLysSerGlyGlnTrpValArgIleAlaCysLeuAlaLeuGlyThrThrGluTyrHisProPheThrLeuThrSerAlaProHisGluAspThrLeuSerLeuHisIleArgAlaValGlyProTrpThrThrArgLeuArgGluIleTyrSerSerProLysGlyAsnGlyCysAlaGlyTyrProLysLeuTyrLeuAspGlyProPheGlyGluGlyHisGlnGluTrpHisLysPheGluValSerValLeuValGlyGlyGlyIleGlyValThrProPheAlaSerIleLeuLysAspLeuValPheLysSerSerLeuGlySerGlnMetLeuCysLysLysIleTyrPheIleTrpValThrArgThrGlnArgGlnPheGluTrpLeuAlaAspIleIleGlnGluValGluGluAsnAspHisGlnAspLeuValSerValHisIleTyrValThrGlnLeuAlaGluLysPheAspLeuArgThrThrMetLeuTyrIleCysGluArgHisPheGlnLysValLeuAsnArgSerLeuPheThrGlyLeuArgSerIleThrHisPheGlyArgProProPheGluProPhePheAsnSerLeuGlnGluValHisProGlnValArgLysIleGlyValPheSerCysGlyProProGlyMetThrLysAsnValGluLysAlaCysGlnLeuValAsnArgGlnAspArgAlaHisPheMetHisHisTyrGluAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727939"
    }
  ],
  "type": "nucleotide"
}