{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA270632",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153784[alleleid]",
        "alleleId": 153784,
        "preferredName": "NM_006662.3(SRCAP):c.7000C>T (p.Gln2334Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/144049",
        "RCV": [
          "RCV000133554"
        ],
        "variationId": 144049
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30747937C>T?assembly=hg19",
        "id": "chr16:g.30747937C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30736616C>T?assembly=hg38",
        "id": "chr16:g.30736616C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777656",
        "rs": 587777656
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30736616,
          "referenceAllele": "C",
          "start": 30736615
        }
      ],
      "hgvs": [
        "NC_000016.10:g.30736616C>T",
        "CM000678.2:g.30736616C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30747937,
          "referenceAllele": "C",
          "start": 30747936
        }
      ],
      "hgvs": [
        "NC_000016.9:g.30747937C>T",
        "CM000678.1:g.30747937C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30655438,
          "referenceAllele": "C",
          "start": 30655437
        }
      ],
      "hgvs": [
        "NC_000016.8:g.30655438C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42476,
          "referenceAllele": "C",
          "start": 42475
        }
      ],
      "hgvs": [
        "NG_032135.1:g.42476C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7536,
          "referenceAllele": "C",
          "start": 7535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000411466.7:c.7000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405186.3:p.Gln2334Ter",
        "hgvsWellDefined": "ENSP00000405186.3:p.Gln2334_Thr3230delinsAlaGluGluGlnValGluAlaAlaArgLysAspLeuAspGlnAlaLysGluGluValPheArgLeuProGlnGluGluGluGluGlyProGlyAlaGlyAspGluSerSerCysGlyThrGlyGlyGlyThrHisArgArgSerLysLysAlaLysAlaProGluArgProGlyThrArgValSerGluArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1280,
          "referenceAllele": "C",
          "start": 1279
        }
      ],
      "hgvs": [
        "ENST00000704023.1:c.1280C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7502,
          "referenceAllele": "C",
          "start": 7501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000706321.1:c.7000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516346.1:p.Gln2334Ter",
        "hgvsWellDefined": "ENSP00000516346.1:p.Gln2334_Thr3230delinsAlaGluGluGlnValGluAlaAlaArgLysAspLeuAspGlnAlaLysGluGluValPheArgLeuProGlnGluGluGluGluGlyProGlyAlaGlyAspGluSerSerCysGlyThrGlyGlyGlyThrHisArgArgSerLysLysAlaLysAlaProGluArgProGlyThrArgValSerGluArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7355,
          "referenceAllele": "C",
          "start": 7354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.9:c.7000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Gln2334Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Gln2334_Thr3230delinsAlaGluGluGlnValGluAlaAlaArgLysAspLeuAspGlnAlaLysGluGluValPheArgLeuProGlnGluGluGluGluGlyProGlyAlaGlyAspGluSerSerCysGlyThrGlyGlyGlyThrHisArgArgSerLysLysAlaLysAlaProGluArgProGlyThrArgValSerGluArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7000C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7000C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Gln2334Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Gln2334Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7385,
          "referenceAllele": "C",
          "start": 7384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.8:c.7000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Gln2334Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Gln2334_Thr3230delinsAlaGluGluGlnValGluAlaAlaArgLysAspLeuAspGlnAlaLysGluGluValPheArgLeuProGlnGluGluGluGluGlyProGlyAlaGlyAspGluSerSerCysGlyThrGlyGlyGlyThrHisArgArgSerLysLysAlaLysAlaProGluArgProGlyThrArgValSerGluArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6469,
          "referenceAllele": "C",
          "start": 6468
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.6469C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:p.Gln2157Ter",
        "hgvsWellDefined": "ENSP00000369719.3:p.Gln2157_Thr3053delinsAlaGluGluGlnValGluAlaAlaArgLysAspLeuAspGlnAlaLysGluGluValPheArgLeuProGlnGluGluGluGluGlyProGlyAlaGlyAspGluSerSerCysGlyThrGlyGlyGlyThrHisArgArgSerLysLysAlaLysAlaProGluArgProGlyThrArgValSerGluArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6433,
          "referenceAllele": "C",
          "start": 6432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.6223C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:p.Gln2075Ter",
        "hgvsWellDefined": "ENSP00000378499.3:p.Gln2075_Thr2971delinsAlaGluGluGlnValGluAlaAlaArgLysAspLeuAspGlnAlaLysGluGluValPheArgLeuProGlnGluGluGluGluGlyProGlyAlaGlyAspGluSerSerCysGlyThrGlyGlyGlyThrHisArgArgSerLysLysAlaLysAlaProGluArgProGlyThrArgValSerGluArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270633",
      "coordinates": [
        {
          "allele": "T",
          "end": 7385,
          "referenceAllele": "C",
          "start": 7384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.2:c.7000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Gln2334Ter",
        "hgvsWellDefined": "NP_006653.2:p.Gln2334_Thr3230delinsAlaGluGluGlnValGluAlaAlaArgLysAspLeuAspGlnAlaLysGluGluValPheArgLeuProGlnGluGluGluGluGlyProGlyAlaGlyAspGluSerSerCysGlyThrGlyGlyGlyThrHisArgArgSerLysLysAlaLysAlaProGluArgProGlyThrArgValSerGluArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA270633",
      "coordinates": [
        {
          "allele": "T",
          "end": 7355,
          "referenceAllele": "C",
          "start": 7354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.7000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Gln2334Ter",
        "hgvsWellDefined": "NP_006653.2:p.Gln2334_Thr3230delinsAlaGluGluGlnValGluAlaAlaArgLysAspLeuAspGlnAlaLysGluGluValPheArgLeuProGlnGluGluGluGluGlyProGlyAlaGlyAspGluSerSerCysGlyThrGlyGlyGlyThrHisArgArgSerLysLysAlaLysAlaProGluArgProGlyThrArgValSerGluArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7000C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7000C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Gln2334Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Gln2334Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}