{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395632367",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4506476",
        "active": true,
        "id": "COSM4506476"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=976664[alleleid]",
        "alleleId": 976664,
        "preferredName": "NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/988731",
        "RCV": [
          "RCV001270394",
          "RCV003235529"
        ],
        "variationId": 988731
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30748580C>T?assembly=hg19",
        "id": "chr16:g.30748580C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30737259C>T?assembly=hg38",
        "id": "chr16:g.30737259C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2506726269",
        "rs": 2506726269
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30737259,
          "referenceAllele": "C",
          "start": 30737258
        }
      ],
      "hgvs": [
        "NC_000016.10:g.30737259C>T",
        "CM000678.2:g.30737259C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30748580,
          "referenceAllele": "C",
          "start": 30748579
        }
      ],
      "hgvs": [
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        "CM000678.1:g.30748580C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30656081,
          "referenceAllele": "C",
          "start": 30656080
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43119,
          "referenceAllele": "C",
          "start": 43118
        }
      ],
      "hgvs": [
        "NG_032135.1:g.43119C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7755,
          "referenceAllele": "C",
          "start": 7754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000411466.7:c.7219C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "hgvs": [
        "ENST00000704023.1:c.1499C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS912135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7721,
          "referenceAllele": "C",
          "start": 7720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000706321.1:c.7219C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516346.1:p.Gln2407Ter",
        "hgvsWellDefined": "ENSP00000516346.1:p.Gln2407_Thr3230delinsGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7574,
          "referenceAllele": "C",
          "start": 7573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.9:c.7219C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000262518.4:p.Gln2407_Thr3230delinsGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7219C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7219C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Gln2407Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Gln2407Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7604,
          "referenceAllele": "C",
          "start": 7603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.8:c.7219C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000262518.4:p.Gln2407_Thr3230delinsGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6688,
          "referenceAllele": "C",
          "start": 6687
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.6688C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:p.Gln2230Ter",
        "hgvsWellDefined": "ENSP00000369719.3:p.Gln2230_Thr3053delinsGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6652,
          "referenceAllele": "C",
          "start": 6651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.6442C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:p.Gln2148Ter",
        "hgvsWellDefined": "ENSP00000378499.3:p.Gln2148_Thr2971delinsGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717563",
      "coordinates": [
        {
          "allele": "T",
          "end": 7604,
          "referenceAllele": "C",
          "start": 7603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.2:c.7219C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Gln2407Ter",
        "hgvsWellDefined": "NP_006653.2:p.Gln2407_Thr3230delinsGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139717563",
      "coordinates": [
        {
          "allele": "T",
          "end": 7574,
          "referenceAllele": "C",
          "start": 7573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.7219C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Gln2407Ter",
        "hgvsWellDefined": "NP_006653.2:p.Gln2407_Thr3230delinsGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7219C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7219C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Gln2407Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Gln2407Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}