{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA036218",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=203133[alleleid]",
        "alleleId": 203133,
        "preferredName": "NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207725",
        "RCV": [
          "RCV000189994",
          "RCV001014296",
          "RCV001083287",
          "RCV003996887"
        ],
        "variationId": 207725
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2121910-G-T",
        "id": "16-2121910-G-T",
        "variant": "16:2121910 G / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2121910G>T?assembly=hg19",
        "id": "chr16:g.2121910G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2071909G>T?assembly=hg38",
        "id": "chr16:g.2071909G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/370553131",
        "rs": 370553131
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2121910-G-T?dataset=gnomad_r2_1",
        "id": "16-2121910-G-T",
        "variant": "16:2121910 G / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2071909-G-T?dataset=gnomad_r3",
        "id": "16-2071909-G-T",
        "variant": "16:2071909 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2071909-G-T?dataset=gnomad_r4",
        "id": "16-2071909-G-T",
        "variant": "16:2071909 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2071909,
          "referenceAllele": "G",
          "start": 2071908
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2071909G>T",
        "CM000678.2:g.2071909G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2121910,
          "referenceAllele": "G",
          "start": 2121909
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2121910G>T",
        "CM000678.1:g.2121910G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2061911,
          "referenceAllele": "G",
          "start": 2061910
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2061911G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27604,
          "referenceAllele": "G",
          "start": 27603
        }
      ],
      "hgvs": [
        "NG_005895.1:g.27604G>T",
        "LRG_487:g.27604G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2101,
          "referenceAllele": "G",
          "start": 2100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*619G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*619G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2233,
          "referenceAllele": "G",
          "start": 2232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.2117G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Arg706Leu",
        "hgvsWellDefined": "ENSP00000495146.2:p.Arg706Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "G",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000495459.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2164,
          "referenceAllele": "G",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*1509G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*1509G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*1677G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*1677G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000219476.3:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2072G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2072G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Arg691Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Arg691Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "G",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000344383.4:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000384468.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000563346.2:n.250G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2173,
          "referenceAllele": "G",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.2105G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Arg702Leu",
        "hgvsWellDefined": "ENSP00000454487.1:p.Arg702Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 729,
          "referenceAllele": "G",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.729G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2124,
          "referenceAllele": "G",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000495099.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "G",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000493846.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2181,
          "referenceAllele": "G",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000494514.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2190,
          "referenceAllele": "G",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000494747.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2371,
          "referenceAllele": "G",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643298.1:c.*1574G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494393.1:n.*1574G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2190,
          "referenceAllele": "G",
          "start": 2189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000495927.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "G",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000496262.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2134,
          "referenceAllele": "G",
          "start": 2133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000496611.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2172,
          "referenceAllele": "G",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000496317.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2065,
          "referenceAllele": "G",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.2065G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "G",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644847.1:n.1064G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768031"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.354G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "G",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645552.1:n.352G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2158,
          "referenceAllele": "G",
          "start": 2157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000495921.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 125,
          "referenceAllele": "G",
          "start": 124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.1:c.125G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.1:p.Arg42Leu",
        "hgvsWellDefined": "ENSP00000496610.1:p.Arg42Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "G",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.1085G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2702,
          "referenceAllele": "G",
          "start": 2701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000219476.3:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "G",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000344383.4:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "G",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.1925G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Arg642Leu",
        "hgvsWellDefined": "ENSP00000371978.6:p.Arg642Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Arg691Leu",
        "hgvsWellDefined": "ENSP00000384468.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1760,
          "referenceAllele": "G",
          "start": 1759
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*1371G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*1371G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2042,
          "referenceAllele": "G",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.1961G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Arg654Leu",
        "hgvsWellDefined": "ENSP00000399232.2:p.Arg654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "G",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000563346.1:n.141G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377360"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2173,
          "referenceAllele": "G",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.2105G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Arg702Leu",
        "hgvsWellDefined": "ENSP00000454487.1:p.Arg702Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319466",
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.2072G>T",
        "LRG_487t1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg691Leu",
        "hgvsWellDefined": "NP_000539.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436221",
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001070651.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574174",
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "G",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001107854.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Arg691Leu",
        "hgvsWellDefined": "XP_005255586.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Arg691Leu",
        "hgvsWellDefined": "XP_005255588.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_011520938.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_011520939.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2120,
          "referenceAllele": "G",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.1961G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Arg654Leu",
        "hgvsWellDefined": "XP_011520940.1:p.Arg654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_011520941.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_011520942.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2120,
          "referenceAllele": "G",
          "start": 2119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.1961G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Arg654Leu",
        "hgvsWellDefined": "XP_011520943.1:p.Arg654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319466",
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "G",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg691Leu",
        "hgvsWellDefined": "NP_000539.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436221",
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "G",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001070651.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574174",
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "G",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001107854.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827002127",
      "coordinates": [
        {
          "allele": "T",
          "end": 2161,
          "referenceAllele": "G",
          "start": 2160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.1961G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Arg654Leu",
        "hgvsWellDefined": "NP_001305756.1:p.Arg654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827007602",
      "coordinates": [
        {
          "allele": "T",
          "end": 2105,
          "referenceAllele": "G",
          "start": 2104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.1925G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Arg642Leu",
        "hgvsWellDefined": "NP_001305758.1:p.Arg642Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827013229",
      "coordinates": [
        {
          "allele": "T",
          "end": 1898,
          "referenceAllele": "G",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.1472G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Arg491Leu",
        "hgvsWellDefined": "NP_001305760.1:p.Arg491Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023782",
      "coordinates": [
        {
          "allele": "T",
          "end": 2173,
          "referenceAllele": "G",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.2105G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Arg702Leu",
        "hgvsWellDefined": "NP_001305761.1:p.Arg702Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828091930",
      "coordinates": [
        {
          "allele": "T",
          "end": 2272,
          "referenceAllele": "G",
          "start": 2271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001350457.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829975365",
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Arg691Leu",
        "hgvsWellDefined": "NP_066399.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Arg691Leu",
        "hgvsWellDefined": "XP_005255588.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_011520938.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_011520939.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2252,
          "referenceAllele": "G",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.2234G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Arg745Leu",
        "hgvsWellDefined": "XP_011520940.2:p.Arg745Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_011520941.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_011520942.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_016879104.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_016879105.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2252,
          "referenceAllele": "G",
          "start": 2251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.2234G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Arg745Leu",
        "hgvsWellDefined": "XP_016879106.1:p.Arg745Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2246,
          "referenceAllele": "G",
          "start": 2245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.728G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Arg243Leu",
        "hgvsWellDefined": "XP_016879107.1:p.Arg243Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "G",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Arg691Leu",
        "hgvsWellDefined": "XP_024306181.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA319466",
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Arg691Leu",
        "hgvsWellDefined": "NP_000539.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2072G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2072G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Arg691Leu"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Arg691Leu"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828412047",
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001357333.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828418182",
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001357334.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825436221",
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001070651.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825574174",
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001107854.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827002127",
      "coordinates": [
        {
          "allele": "T",
          "end": 2071,
          "referenceAllele": "G",
          "start": 2070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.1961G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Arg654Leu",
        "hgvsWellDefined": "NP_001305756.1:p.Arg654Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827007602",
      "coordinates": [
        {
          "allele": "T",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.1925G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Arg642Leu",
        "hgvsWellDefined": "NP_001305758.1:p.Arg642Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827013229",
      "coordinates": [
        {
          "allele": "T",
          "end": 1808,
          "referenceAllele": "G",
          "start": 1807
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.1472G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Arg491Leu",
        "hgvsWellDefined": "NP_001305760.1:p.Arg491Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916023782",
      "coordinates": [
        {
          "allele": "T",
          "end": 2173,
          "referenceAllele": "G",
          "start": 2172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.2105G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Arg702Leu",
        "hgvsWellDefined": "NP_001305761.1:p.Arg702Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828091930",
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Arg691Leu",
        "hgvsWellDefined": "NP_001350457.1:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829975365",
      "coordinates": [
        {
          "allele": "T",
          "end": 2182,
          "referenceAllele": "G",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.2072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Arg691Leu",
        "hgvsWellDefined": "NP_066399.2:p.Arg691Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}