{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395632437",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.7255C>T (p.Gln2419Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=495609[alleleid]",
        "alleleId": 495609,
        "preferredName": "NM_006662.3(SRCAP):c.7255C>T (p.Gln2419Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/504077",
        "RCV": [
          "RCV000598737"
        ],
        "variationId": 504077
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30748616C>T?assembly=hg19",
        "id": "chr16:g.30748616C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30737295C>T?assembly=hg38",
        "id": "chr16:g.30737295C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555465928",
        "rs": 1555465928
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-30737295-C-T?dataset=gnomad_r4",
        "id": "16-30737295-C-T",
        "variant": "16:30737295 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30737295,
          "referenceAllele": "C",
          "start": 30737294
        }
      ],
      "hgvs": [
        "NC_000016.10:g.30737295C>T",
        "CM000678.2:g.30737295C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30748616,
          "referenceAllele": "C",
          "start": 30748615
        }
      ],
      "hgvs": [
        "NC_000016.9:g.30748616C>T",
        "CM000678.1:g.30748616C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30656117,
          "referenceAllele": "C",
          "start": 30656116
        }
      ],
      "hgvs": [
        "NC_000016.8:g.30656117C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43155,
          "referenceAllele": "C",
          "start": 43154
        }
      ],
      "hgvs": [
        "NG_032135.1:g.43155C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7791,
          "referenceAllele": "C",
          "start": 7790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000411466.7:c.7255C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000405186.3:p.Gln2419_Thr3230delinsThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1535,
          "referenceAllele": "C",
          "start": 1534
        }
      ],
      "hgvs": [
        "ENST00000704023.1:c.1535C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7757,
          "referenceAllele": "C",
          "start": 7756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000706321.1:c.7255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516346.1:p.Gln2419Ter",
        "hgvsWellDefined": "ENSP00000516346.1:p.Gln2419_Thr3230delinsThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7610,
          "referenceAllele": "C",
          "start": 7609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.9:c.7255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Gln2419Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Gln2419_Thr3230delinsThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7255C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7255C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Gln2419Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Gln2419Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7640,
          "referenceAllele": "C",
          "start": 7639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.8:c.7255C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Gln2419Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Gln2419_Thr3230delinsThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6724,
          "referenceAllele": "C",
          "start": 6723
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.6724C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:p.Gln2242Ter",
        "hgvsWellDefined": "ENSP00000369719.3:p.Gln2242_Thr3053delinsThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6688,
          "referenceAllele": "C",
          "start": 6687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.6478C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:p.Gln2160Ter",
        "hgvsWellDefined": "ENSP00000378499.3:p.Gln2160_Thr2971delinsThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658817576",
      "coordinates": [
        {
          "allele": "T",
          "end": 7640,
          "referenceAllele": "C",
          "start": 7639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.2:c.7255C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Gln2419Ter",
        "hgvsWellDefined": "NP_006653.2:p.Gln2419_Thr3230delinsThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658817576",
      "coordinates": [
        {
          "allele": "T",
          "end": 7610,
          "referenceAllele": "C",
          "start": 7609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.7255C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Gln2419Ter",
        "hgvsWellDefined": "NP_006653.2:p.Gln2419_Thr3230delinsThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7255C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7255C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Gln2419Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Gln2419Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}