{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394299274",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.4036T>C (p.Ser1346Pro)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2134259T>C?assembly=hg19",
        "id": "chr16:g.2134259T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2084258T>C?assembly=hg38",
        "id": "chr16:g.2084258T>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2084258,
          "referenceAllele": "T",
          "start": 2084257
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2084258T>C",
        "CM000678.2:g.2084258T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2134259,
          "referenceAllele": "T",
          "start": 2134258
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2134259T>C",
        "CM000678.1:g.2134259T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2074260,
          "referenceAllele": "T",
          "start": 2074259
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2074260T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 39953,
          "referenceAllele": "T",
          "start": 39952
        }
      ],
      "hgvs": [
        "NG_005895.1:g.39953T>C",
        "LRG_487:g.39953T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3867,
          "referenceAllele": "T",
          "start": 3866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*2385T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*2385T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3999,
          "referenceAllele": "T",
          "start": 3998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.3883T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Ser1295Pro",
        "hgvsWellDefined": "ENSP00000495146.2:p.Ser1295Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4104,
          "referenceAllele": "T",
          "start": 4103
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.4033T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Ser1345Pro",
        "hgvsWellDefined": "ENSP00000495459.2:p.Ser1345Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5071,
          "referenceAllele": "T",
          "start": 5070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*4416T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*4416T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7123,
          "referenceAllele": "T",
          "start": 7122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*6785T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*6785T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4146,
          "referenceAllele": "T",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.4036T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ser1346Pro",
        "hgvsWellDefined": "ENSP00000219476.3:p.Ser1346Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4036T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4036T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ser1346Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ser1346Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4042,
          "referenceAllele": "T",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.3967T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ser1323Pro",
        "hgvsWellDefined": "ENSP00000344383.4:p.Ser1323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3941,
          "referenceAllele": "T",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.3835T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ser1279Pro",
        "hgvsWellDefined": "ENSP00000384468.2:p.Ser1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3936,
          "referenceAllele": "T",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.3868T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ser1290Pro",
        "hgvsWellDefined": "ENSP00000454487.1:p.Ser1290Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 272,
          "referenceAllele": "T",
          "start": 271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.272T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1918,
          "referenceAllele": "T",
          "start": 1917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.1918T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2690,
          "referenceAllele": "T",
          "start": 2689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.2690T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3959,
          "referenceAllele": "T",
          "start": 3958
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.3907T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Ser1303Pro",
        "hgvsWellDefined": "ENSP00000495099.1:p.Ser1303Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "referenceAllele": "T",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642728.1:n.218T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766898"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3892,
          "referenceAllele": "T",
          "start": 3891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.3838T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Ser1280Pro",
        "hgvsWellDefined": "ENSP00000493846.1:p.Ser1280Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4013,
          "referenceAllele": "T",
          "start": 4012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.3904T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Ser1302Pro",
        "hgvsWellDefined": "ENSP00000494514.1:p.Ser1302Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3953,
          "referenceAllele": "T",
          "start": 3952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.3835T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Ser1279Pro",
        "hgvsWellDefined": "ENSP00000494747.1:p.Ser1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 50,
          "referenceAllele": "T",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643177.1:n.50T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767136"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1684,
          "referenceAllele": "T",
          "start": 1683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.1684T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 477,
          "referenceAllele": "T",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643533.1:n.477T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767332"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4085,
          "referenceAllele": "T",
          "start": 4084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.3967T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Ser1323Pro",
        "hgvsWellDefined": "ENSP00000495927.1:p.Ser1323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3961,
          "referenceAllele": "T",
          "start": 3960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.3907T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Ser1303Pro",
        "hgvsWellDefined": "ENSP00000496262.1:p.Ser1303Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3897,
          "referenceAllele": "T",
          "start": 3896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.3835T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Ser1279Pro",
        "hgvsWellDefined": "ENSP00000496611.1:p.Ser1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3938,
          "referenceAllele": "T",
          "start": 3937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.3838T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Ser1280Pro",
        "hgvsWellDefined": "ENSP00000496317.1:p.Ser1280Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3957,
          "referenceAllele": "T",
          "start": 3956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.3957T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2120,
          "referenceAllele": "T",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.2120T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 279,
          "referenceAllele": "T",
          "start": 278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645186.1:c.279T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768213"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4122,
          "referenceAllele": "T",
          "start": 4121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.4036T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Ser1346Pro",
        "hgvsWellDefined": "ENSP00000495921.1:p.Ser1346Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2851,
          "referenceAllele": "T",
          "start": 2850
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.2851T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1288,
          "referenceAllele": "T",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.1288T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1259,
          "referenceAllele": "T",
          "start": 1258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.1259T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1149,
          "referenceAllele": "T",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.1149T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4666,
          "referenceAllele": "T",
          "start": 4665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.4036T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ser1346Pro",
        "hgvsWellDefined": "ENSP00000219476.3:p.Ser1346Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4042,
          "referenceAllele": "T",
          "start": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.3967T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ser1323Pro",
        "hgvsWellDefined": "ENSP00000344383.4:p.Ser1323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3786,
          "referenceAllele": "T",
          "start": 3785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Ser1231Pro",
        "hgvsWellDefined": "ENSP00000371978.6:p.Ser1231Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3941,
          "referenceAllele": "T",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.3835T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ser1279Pro",
        "hgvsWellDefined": "ENSP00000384468.2:p.Ser1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3592,
          "referenceAllele": "T",
          "start": 3591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*3203T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*3203T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3808,
          "referenceAllele": "T",
          "start": 3807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.3727T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Ser1243Pro",
        "hgvsWellDefined": "ENSP00000399232.2:p.Ser1243Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1794,
          "referenceAllele": "T",
          "start": 1793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.1794T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3936,
          "referenceAllele": "T",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.3868T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ser1290Pro",
        "hgvsWellDefined": "ENSP00000454487.1:p.Ser1290Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 218,
          "referenceAllele": "T",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.218T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1151,
          "referenceAllele": "T",
          "start": 1150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.1151T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4142,
          "referenceAllele": "T",
          "start": 4141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.4036T>C",
        "LRG_487t1:c.4036T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1346Pro",
        "hgvsWellDefined": "NP_000539.2:p.Ser1346Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3941,
          "referenceAllele": "T",
          "start": 3940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.3835T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1279Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Ser1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4073,
          "referenceAllele": "T",
          "start": 4072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.3967T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1323Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Ser1323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3994,
          "referenceAllele": "T",
          "start": 3993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.3907T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Ser1303Pro",
        "hgvsWellDefined": "XP_005255586.2:p.Ser1303Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3925,
          "referenceAllele": "T",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.3838T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ser1280Pro",
        "hgvsWellDefined": "XP_005255588.2:p.Ser1280Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4177,
          "referenceAllele": "T",
          "start": 4176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.4090T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ser1364Pro",
        "hgvsWellDefined": "XP_011520938.1:p.Ser1364Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4174,
          "referenceAllele": "T",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.4087T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ser1363Pro",
        "hgvsWellDefined": "XP_011520939.1:p.Ser1363Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4138,
          "referenceAllele": "T",
          "start": 4137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.3979T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Ser1327Pro",
        "hgvsWellDefined": "XP_011520940.1:p.Ser1327Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4048,
          "referenceAllele": "T",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.3961T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ser1321Pro",
        "hgvsWellDefined": "XP_011520941.1:p.Ser1321Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4045,
          "referenceAllele": "T",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.3958T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ser1320Pro",
        "hgvsWellDefined": "XP_011520942.1:p.Ser1320Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3886,
          "referenceAllele": "T",
          "start": 3885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.3727T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Ser1243Pro",
        "hgvsWellDefined": "XP_011520943.1:p.Ser1243Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4236,
          "referenceAllele": "T",
          "start": 4235
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.4036T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1346Pro",
        "hgvsWellDefined": "NP_000539.2:p.Ser1346Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4035,
          "referenceAllele": "T",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.3835T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1279Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Ser1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4167,
          "referenceAllele": "T",
          "start": 4166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.3967T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1323Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Ser1323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3927,
          "referenceAllele": "T",
          "start": 3926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.3727T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ser1243Pro",
        "hgvsWellDefined": "NP_001305756.1:p.Ser1243Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3871,
          "referenceAllele": "T",
          "start": 3870
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ser1231Pro",
        "hgvsWellDefined": "NP_001305758.1:p.Ser1231Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3730,
          "referenceAllele": "T",
          "start": 3729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.3304T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ser1102Pro",
        "hgvsWellDefined": "NP_001305760.1:p.Ser1102Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3936,
          "referenceAllele": "T",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.3868T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ser1290Pro",
        "hgvsWellDefined": "NP_001305761.1:p.Ser1290Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4038,
          "referenceAllele": "T",
          "start": 4037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.3838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ser1280Pro",
        "hgvsWellDefined": "NP_001350457.1:p.Ser1280Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4017,
          "referenceAllele": "T",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.3907T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ser1303Pro",
        "hgvsWellDefined": "NP_066399.2:p.Ser1303Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3925,
          "referenceAllele": "T",
          "start": 3924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.3838T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ser1280Pro",
        "hgvsWellDefined": "XP_005255588.2:p.Ser1280Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4177,
          "referenceAllele": "T",
          "start": 4176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.4090T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ser1364Pro",
        "hgvsWellDefined": "XP_011520938.1:p.Ser1364Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4174,
          "referenceAllele": "T",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.4087T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ser1363Pro",
        "hgvsWellDefined": "XP_011520939.1:p.Ser1363Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4270,
          "referenceAllele": "T",
          "start": 4269
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.4252T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Ser1418Pro",
        "hgvsWellDefined": "XP_011520940.2:p.Ser1418Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4048,
          "referenceAllele": "T",
          "start": 4047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.3961T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ser1321Pro",
        "hgvsWellDefined": "XP_011520941.1:p.Ser1321Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4045,
          "referenceAllele": "T",
          "start": 4044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.3958T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ser1320Pro",
        "hgvsWellDefined": "XP_011520942.1:p.Ser1320Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4120,
          "referenceAllele": "T",
          "start": 4119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.4033T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Ser1345Pro",
        "hgvsWellDefined": "XP_016879104.1:p.Ser1345Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3991,
          "referenceAllele": "T",
          "start": 3990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.3904T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Ser1302Pro",
        "hgvsWellDefined": "XP_016879105.1:p.Ser1302Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4018,
          "referenceAllele": "T",
          "start": 4017
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.4000T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Ser1334Pro",
        "hgvsWellDefined": "XP_016879106.1:p.Ser1334Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4264,
          "referenceAllele": "T",
          "start": 4263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.2746T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Ser916Pro",
        "hgvsWellDefined": "XP_016879107.1:p.Ser916Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3922,
          "referenceAllele": "T",
          "start": 3921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.3835T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Ser1279Pro",
        "hgvsWellDefined": "XP_024306181.1:p.Ser1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4146,
          "referenceAllele": "T",
          "start": 4145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.4036T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ser1346Pro",
        "hgvsWellDefined": "NP_000539.2:p.Ser1346Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.4036T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.4036T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ser1346Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ser1346Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4014,
          "referenceAllele": "T",
          "start": 4013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.3904T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Ser1302Pro",
        "hgvsWellDefined": "NP_001357333.1:p.Ser1302Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4017,
          "referenceAllele": "T",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.3907T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Ser1303Pro",
        "hgvsWellDefined": "NP_001357334.1:p.Ser1303Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3945,
          "referenceAllele": "T",
          "start": 3944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.3835T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ser1279Pro",
        "hgvsWellDefined": "NP_001070651.1:p.Ser1279Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4077,
          "referenceAllele": "T",
          "start": 4076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.3967T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ser1323Pro",
        "hgvsWellDefined": "NP_001107854.1:p.Ser1323Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3837,
          "referenceAllele": "T",
          "start": 3836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.3727T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ser1243Pro",
        "hgvsWellDefined": "NP_001305756.1:p.Ser1243Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3781,
          "referenceAllele": "T",
          "start": 3780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.3691T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ser1231Pro",
        "hgvsWellDefined": "NP_001305758.1:p.Ser1231Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3640,
          "referenceAllele": "T",
          "start": 3639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.3304T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ser1102Pro",
        "hgvsWellDefined": "NP_001305760.1:p.Ser1102Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3936,
          "referenceAllele": "T",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.3868T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ser1290Pro",
        "hgvsWellDefined": "NP_001305761.1:p.Ser1290Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3948,
          "referenceAllele": "T",
          "start": 3947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.3838T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ser1280Pro",
        "hgvsWellDefined": "NP_001350457.1:p.Ser1280Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4017,
          "referenceAllele": "T",
          "start": 4016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.3907T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ser1303Pro",
        "hgvsWellDefined": "NP_066399.2:p.Ser1303Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}