{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA209079",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=207110[alleleid]",
        "alleleId": 207110,
        "preferredName": "NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210609",
        "RCV": [
          "RCV000194720",
          "RCV000763523",
          "RCV003765214",
          "RCV003238731",
          "RCV004528978"
        ],
        "variationId": 210609
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-15558984-C-T",
        "id": "4-15558984-C-T",
        "variant": "4:15558984 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15558984C>T?assembly=hg19",
        "id": "chr4:g.15558984C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15558984_15558987delinsTAGG?assembly=hg19",
        "id": "chr4:g.15558984_15558987delinsTAGG"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15557361C>T?assembly=hg38",
        "id": "chr4:g.15557361C>T"
      },
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15557361_15557364delinsTAGG?assembly=hg38",
        "id": "chr4:g.15557361_15557364delinsTAGG"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764719093",
        "rs": 764719093
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15558984-C-T?dataset=gnomad_r2_1",
        "id": "4-15558984-C-T",
        "variant": "4:15558984 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15557361-C-T?dataset=gnomad_r4",
        "id": "4-15557361-C-T",
        "variant": "4:15557361 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15557361,
          "referenceAllele": "C",
          "start": 15557360
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15557361C>T",
        "CM000666.2:g.15557361C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15558984,
          "referenceAllele": "C",
          "start": 15558983
        }
      ],
      "hgvs": [
        "NC_000004.11:g.15558984C>T",
        "CM000666.1:g.15558984C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15168082,
          "referenceAllele": "C",
          "start": 15168081
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15168082C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 92496,
          "referenceAllele": "C",
          "start": 92495
        }
      ],
      "hgvs": [
        "NG_013035.1:g.92496C>T",
        "LRG_697:g.92496C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2701,
          "referenceAllele": "C",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.2683C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Gln895Ter",
        "hgvsWellDefined": "ENSP00000374303.8:p.Gln895_Arg1632delinsGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerSerGluGlySerGlyIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysMetSerAsnMetLeuLysLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2877,
          "referenceAllele": "C",
          "start": 2876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.2683C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Gln895Ter",
        "hgvsWellDefined": "ENSP00000403465.1:p.Gln895_Arg1620delinsGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.2683C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.2683C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Gln895Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Gln895Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2922,
          "referenceAllele": "C",
          "start": 2921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.2683C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Gln895Ter",
        "hgvsWellDefined": "ENSP00000421809.1:p.Gln895_Arg1620delinsGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2685,
          "referenceAllele": "C",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.2536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Gln846Ter",
        "hgvsWellDefined": "ENSP00000422931.2:p.Gln846_Arg1571delinsGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2536,
          "referenceAllele": "C",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.2536C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Gln846Ter",
        "hgvsWellDefined": "ENSP00000488669.2:p.Gln846_Ala1411delinsGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnAlaGlnAlaMetGluIlePheLeuPheLysLysProSerIleSerTrpProPheGlnCysSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
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      "referenceSequence": "http://reg.genome.network/refseq/RS058339"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 2883,
          "referenceAllele": "C",
          "start": 2882
        }
      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 2755,
          "referenceAllele": "C",
          "start": 2754
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 2677,
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2883,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081104"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543070"
    },
    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
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        }
      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS591311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573075266",
      "coordinates": [
        {
          "allele": "T",
          "end": 2877,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Gln895Ter",
        "hgvsWellDefined": "NP_001365544.1:p.Gln895_Arg1620delinsGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.2683C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.2683C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Gln895Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Gln895Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828787194",
      "coordinates": [
        {
          "allele": "T",
          "end": 2677,
          "referenceAllele": "C",
          "start": 2676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.2536C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Gln846Ter",
        "hgvsWellDefined": "NP_001365546.1:p.Gln846_Arg1571delinsGluPheAsnPheValSerAspGlnGluLeuAsnArgSerLysArgPheArgLeuLeuHisLeuArgSerGlnGluValProGluPheArgAsnTyrLysGlnValProValTyrAspArgGluIleMetGluLysValPheGlnAspTyrGluLysArgLeuArgAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}