{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA344725724",
  "communityStandardTitle": [
    "NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=823472[alleleid]",
        "alleleId": 823472,
        "preferredName": "NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/837843",
        "RCV": [
          "RCV001824401"
        ],
        "variationId": 837843
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.218520340C>G?assembly=hg19",
        "id": "chr1:g.218520340C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.218346998C>G?assembly=hg38",
        "id": "chr1:g.218346998C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/760759052",
        "rs": 760759052
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 218346998,
          "referenceAllele": "C",
          "start": 218346997
        }
      ],
      "hgvs": [
        "NC_000001.11:g.218346998C>G",
        "CM000663.2:g.218346998C>G"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 218520340,
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      ],
      "hgvs": [
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        "CM000663.1:g.218520340C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 216586963,
          "referenceAllele": "C",
          "start": 216586962
        }
      ],
      "hgvs": [
        "NC_000001.9:g.216586963C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
      "hgvs": [
        "NG_027721.1:g.6665C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003929"
    },
    {
      "coordinates": [
        {
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      ],
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        "NG_027721.2:g.6665C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS616271"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355897.4:p.Tyr99_Ser414delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749883",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000366930.9:c.297C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003238.6:c.297C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:p.Tyr99Ter"
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            "hgvs": "NP_003229.1:p.Tyr99Ter"
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      "coordinates": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355896.4:p.Tyr99_Ser442delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluThrValCysProValValThrThrProSerGlySerValGlySerLeuCysSerArgGlnSerGlnValLeuCysGlyTyrLeuAspAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266096"
    },
    {
      "coordinates": [
        {
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355897.4:p.Tyr99_Ser414delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266097"
    },
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      "@id": "http://reg.genome.network/allele/PA353620",
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        {
          "allele": "G",
          "end": 1665,
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      ],
      "gene": "http://reg.genome.network/gene/GN011768",
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        "hgvsWellDefined": "NP_001129071.1:p.Tyr99_Ser442delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluThrValCysProValValThrThrProSerGlySerValGlySerLeuCysSerArgGlnSerGlnValLeuCysGlyTyrLeuAspAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353621",
      "coordinates": [
        {
          "allele": "G",
          "end": 1665,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
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      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.3:c.297C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_003229.1:p.Tyr99_Ser414delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028492"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353620",
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        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "C",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001129071.1:p.Tyr99_Ser442delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluThrValCysProValValThrThrProSerGlySerValGlySerLeuCysSerArgGlnSerGlnValLeuCysGlyTyrLeuAspAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511487"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353621",
      "coordinates": [
        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_003229.1:p.Tyr99_Ser414delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525076"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138148.1:n.1715C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS529211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "hgvs": [
        "NR_138149.1:n.1715C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS529212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353621",
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        {
          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.5:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Tyr99Ter",
        "hgvsWellDefined": "NP_003229.1:p.Tyr99_Ser414delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA353621",
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_003238.6:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003229.1:p.Tyr99Ter",
        "hgvsWellDefined": "NP_003229.1:p.Tyr99_Ser414delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluAsnAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695762",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000366930.9:c.297C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003238.6:c.297C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355897.4:p.Tyr99Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003229.1:p.Tyr99Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA353620",
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NM_001135599.4:c.297C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129071.1:p.Tyr99Ter",
        "hgvsWellDefined": "NP_001129071.1:p.Tyr99_Ser442delinsAlaLysGluValTyrLysIleAspMetProProPhePheProSerGluThrValCysProValValThrThrProSerGlySerValGlySerLeuCysSerArgGlnSerGlnValLeuCysGlyTyrLeuAspAlaIleProProThrPheTyrArgProTyrPheArgIleValArgPheAspValSerAlaMetGluLysAsnAlaSerAsnLeuValLysAlaGluPheArgValPheArgLeuGlnAsnProLysAlaArgValProGluGlnArgIleGluLeuTyrGlnIleLeuLysSerLysAspLeuThrSerProThrGlnArgTyrIleAspSerLysValValLysThrArgAlaGluGlyGluTrpLeuSerPheAspValThrAspAlaValHisGluTrpLeuHisHisLysAspArgAsnLeuGlyPheLysIleSerLeuHisCysProCysCysThrPheValProSerAsnAsnTyrIleIleProAsnLysSerGluGluLeuGluAlaArgPheAlaGlyIleAspGlyThrSerThrTyrThrSerGlyAspGlnLysThrIleLysSerThrArgLysLysAsnSerGlyLysThrProHisLeuLeuLeuMetLeuLeuProSerTyrArgLeuGluSerGlnGlnThrAsnArgArgLysLysArgAlaLeuAspAlaAlaTyrCysPheArgAsnValGlnAspAsnCysCysLeuArgProLeuTyrIleAspPheLysArgAspLeuGlyTrpLysTrpIleHisGluProLysGlyTyrAsnAlaAsnPheCysAlaGlyAlaCysProTyrLeuTrpSerSerAspThrGlnHisSerArgValLeuSerLeuTyrAsnThrIleAsnProGluAlaSerAlaSerProCysCysValSerGlnAspLeuGluProLeuThrIleLeuTyrTyrIleGlyLysThrProLysIleGluGlnLeuSerAsnMetIleValLysSerCysLysCysSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138148.2:n.1663C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731094"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011768",
      "geneNCBI_id": 7042,
      "geneSymbol": "TGFB2",
      "hgvs": [
        "NR_138149.2:n.1663C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731095"
    }
  ],
  "type": "nucleotide"
}