{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609391",
  "communityStandardTitle": [
    "NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=384403[alleleid]",
        "alleleId": 384403,
        "preferredName": "NM_000297.4(PKD2):c.916C>T (p.Arg306Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/397507",
        "RCV": [
          "RCV000449565",
          "RCV000681703",
          "RCV001292151",
          "RCV001861649"
        ],
        "variationId": 397507
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88959475C>T?assembly=hg19",
        "id": "chr4:g.88959475C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.88038323C>T?assembly=hg38",
        "id": "chr4:g.88038323C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200001068",
        "rs": 200001068
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88959475-C-T?dataset=gnomad_r2_1",
        "id": "4-88959475-C-T",
        "variant": "4:88959475 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88038323-C-T?dataset=gnomad_r3",
        "id": "4-88038323-C-T",
        "variant": "4:88038323 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-88038323-C-T?dataset=gnomad_r4",
        "id": "4-88038323-C-T",
        "variant": "4:88038323 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 88038323,
          "referenceAllele": "C",
          "start": 88038322
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      ],
      "hgvs": [
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        "CM000666.2:g.88038323C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 88959475,
          "referenceAllele": "C",
          "start": 88959474
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      ],
      "hgvs": [
        "NC_000004.11:g.88959475C>T",
        "CM000666.1:g.88959475C>T"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 89178499,
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          "start": 89178498
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      ],
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        "NC_000004.10:g.89178499C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
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          "end": 35656,
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          "start": 35655
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      ],
      "hgvs": [
        "NG_008604.1:g.35656C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001124"
    }
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  "transcriptAlleles": [
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS741004",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000237596.7:c.916C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.916C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Arg306Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Arg306Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 982,
          "referenceAllele": "C",
          "start": 981
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000237596.6:c.916C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000237596.2:p.Arg306_Val968delinsSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249010"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "referenceAllele": "C",
          "start": 362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS337923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "ENST00000506727.1:n.502C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS338205"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458934",
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.3:c.916C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000288.1:p.Arg306_Val968delinsSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006358"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.1:c.916C>T"
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      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Arg306Ter",
        "hgvsWellDefined": "XP_011530330.1:p.Arg306_Val893delinsSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532029.1:c.196C>T"
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      "proteinEffect": {
        "hgvs": "XP_011530331.1:p.Arg66Ter",
        "hgvsWellDefined": "XP_011530331.1:p.Arg66_Val728delinsSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532030.1:c.76C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:p.Arg26Ter",
        "hgvsWellDefined": "XP_011530332.1:p.Arg26_Val688delinsSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XR_244632.2:n.1011C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS116788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1003,
          "referenceAllele": "C",
          "start": 1002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.1:n.1003C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 996,
          "referenceAllele": "C",
          "start": 995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532028.2:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530330.1:p.Arg306Ter",
        "hgvsWellDefined": "XP_011530330.1:p.Arg306_Val893delinsSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550657"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "C",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "XM_011532030.2:c.76C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530332.1:p.Arg26Ter",
        "hgvsWellDefined": "XP_011530332.1:p.Arg26_Val688delinsSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS550658"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645458934",
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NM_000297.4:c.916C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000288.1:p.Arg306Ter",
        "hgvsWellDefined": "NP_000288.1:p.Arg306_Val968delinsSerPheIlePheTyrGluAsnLeuLeuLeuGlyValProArgIleArgGlnLeuArgValArgAsnGlySerCysSerIleProGlnAspLeuArgAspGluIleLysGluCysTyrAspValTyrSerValSerSerGluAspArgAlaProPheGlyProArgAsnGlyThrAlaTrpIleTyrThrSerGluLysAspLeuAsnGlySerSerHisTrpGlyIleIleAlaThrTyrSerGlyAlaGlyTyrTyrLeuAspLeuSerArgThrArgGluGluThrAlaAlaGlnValAlaSerLeuLysLysAsnValTrpLeuAspArgGlyThrArgAlaThrPheIleAspPheSerValTyrAsnAlaAsnIleAsnLeuPheCysValValArgLeuLeuValGluPheProAlaThrGlyGlyValIleProSerTrpGlnPheGlnProLeuLysLeuIleArgTyrValThrThrPheAspPhePheLeuAlaAlaCysGluIleIlePheCysPhePheIlePheTyrTyrValValGluGluIleLeuGluIleArgIleHisLysLeuHisTyrPheArgSerPheTrpAsnCysLeuAspValValIleValValLeuSerValValAlaIleGlyIleAsnIleTyrArgThrSerAsnValGluValLeuLeuGlnPheLeuGluAspGlnAsnThrPheProAsnPheGluHisLeuAlaTyrTrpGlnIleGlnPheAsnAsnIleAlaAlaValThrValPhePheValTrpIleLysLeuPheLysPheIleAsnPheAsnArgThrMetSerGlnLeuSerThrThrMetSerArgCysAlaLysAspLeuPheGlyPheAlaIleMetPhePheIleIlePheLeuAlaTyrAlaGlnLeuAlaTyrLeuValPheGlyThrGlnValAspAspPheSerThrPheGlnGluCysIlePheThrGlnPheArgIleIleLeuGlyAspIleAsnPheAlaGluIleGluGluAlaAsnArgValLeuGlyProIleTyrPheThrThrPheValPhePheMetPhePheIleLeuLeuAsnMetPheLeuAlaIleIleAsnAspThrTyrSerGluValLysSerAspLeuAlaGlnGlnLysAlaGluMetGluLeuSerAspLeuIleArgLysGlyTyrHisLysAlaLeuValLysLeuLysLeuLysLysAsnThrValAspAspIleSerGluSerLeuArgGlnGlyGlyGlyLysLeuAsnPheAspGluLeuArgGlnAspLeuLysGlyLysGlyHisThrAspAlaGluIleGluAlaIlePheThrLysTyrAspGlnAspGlyAspGlnGluLeuThrGluHisGluHisGlnGlnMetArgAspAspLeuGluLysGluArgGluAspLeuAspLeuAspHisSerSerLeuProArgProMetSerSerArgSerPheProArgSerLeuAspAspSerGluGluAspAspAspGluAspSerGlyHisSerSerArgArgArgGlySerIleSerSerGlyValSerTyrGluGluPheGlnValLeuValArgArgValAspArgMetGluHisSerIleGlySerIleValSerLysIleAspAlaValIleValLysLeuGluIleMetGluArgAlaLysLeuLysArgArgGluValLeuGlyArgLeuLeuAspGlyValAlaGluAspGluArgLeuGlyArgAspSerGluIleHisArgGluGlnMetGluArgLeuValArgGluGluLeuGluArgTrpGluSerAspAspAlaAlaSerGlnIleSerHisGlyLeuGlyThrProValGlyLeuAsnGlyGlnProArgProArgSerSerArgProSerSerSerGlnSerThrGluGlyMetGluGlyAlaGlyGlyAsnGlySerSerAsnValHisValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662392",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000237596.7:c.916C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000297.4:c.916C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000237596.2:p.Arg306Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000288.1:p.Arg306Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1015,
          "referenceAllele": "C",
          "start": 1014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009009",
      "geneNCBI_id": 5311,
      "geneSymbol": "PKD2",
      "hgvs": [
        "NR_156488.2:n.1015C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704972"
    }
  ],
  "type": "nucleotide"
}