{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10584269",
  "communityStandardTitle": [
    "NM_024577.4(SH3TC2):c.2488G>T (p.Glu830Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=244467[alleleid]",
        "alleleId": 244467,
        "preferredName": "NM_024577.4(SH3TC2):c.2488G>T (p.Glu830Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/246578",
        "RCV": [
          "RCV000235715"
        ],
        "variationId": 246578
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.148406807C>A?assembly=hg19",
        "id": "chr5:g.148406807C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.149027244C>A?assembly=hg38",
        "id": "chr5:g.149027244C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/879254317",
        "rs": 879254317
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 149027244,
          "referenceAllele": "C",
          "start": 149027243
        }
      ],
      "hgvs": [
        "NC_000005.10:g.149027244C>A",
        "CM000667.2:g.149027244C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 148406807,
          "referenceAllele": "C",
          "start": 148406806
        }
      ],
      "hgvs": [
        "NC_000005.9:g.148406807C>A",
        "CM000667.1:g.148406807C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "A",
          "end": 148387000,
          "referenceAllele": "C",
          "start": 148386999
        }
      ],
      "hgvs": [
        "NC_000005.8:g.148387000C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40931,
          "referenceAllele": "G",
          "start": 40930
        }
      ],
      "hgvs": [
        "NG_007947.2:g.40931G>T",
        "LRG_269:g.40931G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000715"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2384,
          "referenceAllele": "G",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000502274.2:c.2384G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "G",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.6:c.2488G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Glu830Ter",
        "hgvsWellDefined": "ENSP00000423660.1:p.Glu830_Leu1288delinsSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758388",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.2488G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.2488G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Glu830Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Glu830Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2868,
          "referenceAllele": "G",
          "start": 2867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000675793.1:c.*1772G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502039.1:n.*1772G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2732,
          "referenceAllele": "G",
          "start": 2731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000676056.1:c.*1998G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501827.1:n.*1998G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2582,
          "referenceAllele": "G",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000323829.9:c.*1876G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000313025.5:n.*1876G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2018,
          "referenceAllele": "G",
          "start": 2017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504517.5:c.2018G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421779.1:n.2018G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2629,
          "referenceAllele": "G",
          "start": 2628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000504690.5:c.2488G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425627.1:p.Glu830Ter",
        "hgvsWellDefined": "ENSP00000425627.1:p.Glu830_Glu1259delinsSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysPheLeuLeuCysCysProGlyTrpSerSerValValGlnSerGlyLeuProAlaThrSerAspSerGlyAlaGlnValIleLeuGlnCysGlnProProGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS336681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1538,
          "referenceAllele": "G",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000510779.1:c.1538G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS341192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "G",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000511307.5:c.*2268G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421420.1:n.*2268G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS341603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2534,
          "referenceAllele": "G",
          "start": 2533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000512049.5:c.2467G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421860.1:p.Glu823Ter",
        "hgvsWellDefined": "ENSP00000421860.1:p.Glu823_Leu1281delinsSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS342171"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2585,
          "referenceAllele": "G",
          "start": 2584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000513604.5:c.*1876G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423111.1:n.*1876G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343306"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2590,
          "referenceAllele": "G",
          "start": 2589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "ENST00000515425.5:c.2488G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000423660.1:p.Glu830Ter",
        "hgvsWellDefined": "ENSP00000423660.1:p.Glu830_Leu1288delinsSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS344659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645414241",
      "coordinates": [
        {
          "allele": "T",
          "end": 2640,
          "referenceAllele": "G",
          "start": 2639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.3:c.2488G>T",
        "LRG_269t1:c.2488G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Glu830Ter",
        "hgvsWellDefined": "NP_078853.2:p.Glu830_Leu1288delinsSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645414241",
      "coordinates": [
        {
          "allele": "T",
          "end": 2528,
          "referenceAllele": "G",
          "start": 2527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029427",
      "geneNCBI_id": 79628,
      "geneSymbol": "SH3TC2",
      "hgvs": [
        "NM_024577.4:c.2488G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078853.2:p.Glu830Ter",
        "hgvsWellDefined": "NP_078853.2:p.Glu830_Leu1288delinsSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698719",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000515425.6:c.2488G>T"
          },
          "RefSeq": {
            "hgvs": "NM_024577.4:c.2488G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000423660.1:p.Glu830Ter"
          },
          "RefSeq": {
            "hgvs": "NP_078853.2:p.Glu830Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}