{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA395632305",
  "communityStandardTitle": [
    "NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=985760[alleleid]",
        "alleleId": 985760,
        "preferredName": "NM_006662.3(SRCAP):c.7189G>T (p.Glu2397Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/998019",
        "RCV": [
          "RCV001293700"
        ],
        "variationId": 998019
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30748550G>T?assembly=hg19",
        "id": "chr16:g.30748550G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.30737229G>T?assembly=hg38",
        "id": "chr16:g.30737229G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2053169420",
        "rs": 2053169420
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30737229,
          "referenceAllele": "G",
          "start": 30737228
        }
      ],
      "hgvs": [
        "NC_000016.10:g.30737229G>T",
        "CM000678.2:g.30737229G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30748550,
          "referenceAllele": "G",
          "start": 30748549
        }
      ],
      "hgvs": [
        "NC_000016.9:g.30748550G>T",
        "CM000678.1:g.30748550G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 30656051,
          "referenceAllele": "G",
          "start": 30656050
        }
      ],
      "hgvs": [
        "NC_000016.8:g.30656051G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43089,
          "referenceAllele": "G",
          "start": 43088
        }
      ],
      "hgvs": [
        "NG_032135.1:g.43089G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005138"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7725,
          "referenceAllele": "G",
          "start": 7724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000411466.7:c.7189G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405186.3:p.Glu2397Ter",
        "hgvsWellDefined": "ENSP00000405186.3:p.Glu2397_Thr3230delinsArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "G",
          "start": 1468
        }
      ],
      "hgvs": [
        "ENST00000704023.1:c.1469G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS912135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7691,
          "referenceAllele": "G",
          "start": 7690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000706321.1:c.7189G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516346.1:p.Glu2397Ter",
        "hgvsWellDefined": "ENSP00000516346.1:p.Glu2397_Thr3230delinsArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS912804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7544,
          "referenceAllele": "G",
          "start": 7543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.9:c.7189G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Glu2397Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Glu2397_Thr3230delinsArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7189G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7189G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Glu2397Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Glu2397Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7574,
          "referenceAllele": "G",
          "start": 7573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000262518.8:c.7189G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262518.4:p.Glu2397Ter",
        "hgvsWellDefined": "ENSP00000262518.4:p.Glu2397_Thr3230delinsArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6658,
          "referenceAllele": "G",
          "start": 6657
        }
      ],
      "hgvs": [
        "ENST00000380361.7:c.6658G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369719.3:p.Glu2220Ter",
        "hgvsWellDefined": "ENSP00000369719.3:p.Glu2220_Thr3053delinsArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6622,
          "referenceAllele": "G",
          "start": 6621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "ENST00000395059.6:c.6412G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000378499.3:p.Glu2138Ter",
        "hgvsWellDefined": "ENSP00000378499.3:p.Glu2138_Thr2971delinsArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS276496"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499274475",
      "coordinates": [
        {
          "allele": "T",
          "end": 7574,
          "referenceAllele": "G",
          "start": 7573
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.2:c.7189G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Glu2397Ter",
        "hgvsWellDefined": "NP_006653.2:p.Glu2397_Thr3230delinsArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499274475",
      "coordinates": [
        {
          "allele": "T",
          "end": 7544,
          "referenceAllele": "G",
          "start": 7543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NM_006662.3:c.7189G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_006653.2:p.Glu2397Ter",
        "hgvsWellDefined": "NP_006653.2:p.Glu2397_Thr3230delinsArgLeuArgGlyAlaArgAlaGluThrGlnGlyAlaAsnHisThrProValIleSerAlaHisGlnThrArgSerThrThrThrProProArgCysSerProAlaArgGluArgValProArgProAlaProArgProArgProThrProAlaSerAlaProAlaAlaIleProAlaLeuValProValProValSerAlaProValProIleSerAlaProAsnProIleThrIleLeuProValHisIleLeuProSerProProProProSerGlnIleProProCysSerSerProAlaCysThrProProProAlaCysThrProProProAlaHisThrProProProAlaGlnThrCysLeuValThrProSerSerProLeuLeuLeuGlyProProSerValProIleSerAlaSerValThrAsnLeuProLeuGlyLeuArgProGluAlaGluLeuCysAlaGlnAlaLeuAlaSerProGluSerLeuGluLeuAlaSerValAlaSerSerGluThrSerSerLeuSerLeuValProProLysAspLeuLeuProValAlaValGluIleLeuProValSerGluLysAsnLeuSerLeuThrProSerAlaProSerLeuThrLeuGluAlaGlySerIleProAsnGlyGlnGluGlnGluAlaProAspSerAlaGluGlyThrThrLeuThrValLeuProGluGlyGluGluLeuProLeuCysValSerGluSerAsnGlyLeuGluLeuProProSerAlaAlaSerAspGluProLeuGlnGluProLeuGluAlaAspArgThrSerGluGluLeuThrGluAlaLysThrProThrSerSerProGluLysProGlnGluLeuValThrAlaGluValAlaAlaProSerThrSerSerSerAlaThrSerSerProGluGlyProSerProAlaArgProProArgArgArgThrSerAlaAspValGluIleArgGlyGlnGlyThrGlyArgProGlyGlnProProGlyProLysValLeuArgLysLeuProGlyArgLeuValThrValValGluGluLysGluLeuValArgArgArgArgGlnGlnArgGlyAlaAlaSerThrLeuValProGlyValSerGluThrSerAlaSerProGlySerProSerValArgSerMetSerGlyProGluSerSerProProIleGlyGlyProCysGluAlaAlaProSerSerSerLeuProThrProProGlnGlnProPheIleAlaArgArgHisIleGluLeuGlyValThrGlyGlyGlySerProGluAsnGlyAspGlyAlaLeuLeuAlaIleThrProProAlaValLysArgArgArgGlyArgProProLysLysAsnArgSerProAlaAspAlaGlyArgGlyValAspGluAlaProSerSerThrLeuLysGlyLysThrAsnGlyAlaAspProValProGlyProGluThrLeuIleValAlaAspProValLeuGluProGlnLeuIleProGlyProGlnProLeuGlyProGlnProValHisArgProAsnProLeuLeuSerProValGluLysArgArgArgGlyArgProProLysAlaArgAspLeuProIleProGlyThrIleSerSerAlaGlyAspGlyAsnSerGluSerArgThrGlnProProProHisProSerProLeuThrProLeuProProLeuLeuValCysProThrAlaThrValAlaAsnThrValThrThrValThrIleSerThrSerProProLysArgLysArgGlyArgProProLysAsnProProSerProArgProSerGlnLeuProValLeuAspArgAspSerThrSerValLeuGluSerCysGlyLeuGlyArgArgArgGlnProGlnGlyGlnGlyGluSerGluGlySerSerSerAspGluAspGlySerArgProLeuThrArgLeuAlaArgLeuArgLeuGluAlaGluGlyMetArgGlyArgLysSerGlyGlySerMetValValAlaValIleGlnAspAspLeuAspLeuAlaAspSerGlyProGlyGlyLeuGluLeuThrProProValValSerLeuThrProLysLeuArgSerThrArgLeuArgProGlySerLeuValProProLeuGluThrGluLysLeuProArgLysArgAlaGlyAlaProValGlyGlySerProGlyLeuAlaLysArgGlyArgLeuGlnProProSerProLeuGlyProGluGlySerValGluGluSerGluAlaGluAlaSerGlyGluGluGluGluGlyAspGlyThrProArgArgArgProGlyProArgArgLeuValGlyThrThrAsnGlnGlyAspGlnArgIleLeuArgSerSerAlaProProSerLeuAlaGlyProAlaValSerHisArgGlyArgLysAlaLysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667564",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262518.9:c.7189G>T"
          },
          "RefSeq": {
            "hgvs": "NM_006662.3:c.7189G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262518.4:p.Glu2397Ter"
          },
          "RefSeq": {
            "hgvs": "NP_006653.2:p.Glu2397Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}