{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022652",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.*5G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=184150[alleleid]",
        "alleleId": 184150,
        "preferredName": "NM_000548.5(TSC2):c.*5G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/184450",
        "RCV": [
          "RCV000163706",
          "RCV000346660",
          "RCV001797646",
          "RCV001547283",
          "RCV004535080"
        ],
        "variationId": 184450
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2138616-G-A",
        "id": "16-2138616-G-A",
        "variant": "16:2138616 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2138616G>A?assembly=hg19",
        "id": "chr16:g.2138616G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2088615G>A?assembly=hg38",
        "id": "chr16:g.2088615G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201342697",
        "rs": 201342697
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2138616-G-A?dataset=gnomad_r2_1",
        "id": "16-2138616-G-A",
        "variant": "16:2138616 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2088615-G-A?dataset=gnomad_r3",
        "id": "16-2088615-G-A",
        "variant": "16:2088615 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2088615-G-A?dataset=gnomad_r4",
        "id": "16-2088615-G-A",
        "variant": "16:2088615 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2088615,
          "referenceAllele": "G",
          "start": 2088614
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2088615G>A",
        "CM000678.2:g.2088615G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2138616,
          "referenceAllele": "G",
          "start": 2138615
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2138616G>A",
        "CM000678.1:g.2138616G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "A",
          "end": 2078617,
          "referenceAllele": "G",
          "start": 2078616
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2078617G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44310,
          "referenceAllele": "G",
          "start": 44309
        }
      ],
      "hgvs": [
        "NG_005895.1:g.44310G>A",
        "LRG_487:g.44310G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54606,
          "referenceAllele": "C",
          "start": 54605
        }
      ],
      "hgvs": [
        "NG_008617.1:g.54606C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5260,
          "referenceAllele": "G",
          "start": 5259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*3778G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*3778G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5392,
          "referenceAllele": "G",
          "start": 5391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5497,
          "referenceAllele": "G",
          "start": 5496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6597,
          "referenceAllele": "G",
          "start": 6596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*5942G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*5942G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8516,
          "referenceAllele": "G",
          "start": 8515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*8178G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*8178G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5539,
          "referenceAllele": "G",
          "start": 5538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.*5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.*5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:n.*5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:n.*5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5435,
          "referenceAllele": "G",
          "start": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5334,
          "referenceAllele": "G",
          "start": 5333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5329,
          "referenceAllele": "G",
          "start": 5328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1652,
          "referenceAllele": "G",
          "start": 1651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.2:c.1652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3311,
          "referenceAllele": "G",
          "start": 3310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.2:n.3311G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760618"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4083,
          "referenceAllele": "G",
          "start": 4082
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.4083G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5340,
          "referenceAllele": "G",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1026,
          "referenceAllele": "G",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642791.1:n.1026G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5285,
          "referenceAllele": "G",
          "start": 5284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5406,
          "referenceAllele": "G",
          "start": 5405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5340,
          "referenceAllele": "G",
          "start": 5339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3077,
          "referenceAllele": "G",
          "start": 3076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643426.1:n.3077G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5472,
          "referenceAllele": "G",
          "start": 5471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5354,
          "referenceAllele": "G",
          "start": 5353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5377,
          "referenceAllele": "G",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5325,
          "referenceAllele": "G",
          "start": 5324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5350,
          "referenceAllele": "G",
          "start": 5349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.5350G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5509,
          "referenceAllele": "G",
          "start": 5508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4244,
          "referenceAllele": "G",
          "start": 4243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.4244G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2681,
          "referenceAllele": "G",
          "start": 2680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646674.1:n.2681G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2652,
          "referenceAllele": "G",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647042.1:n.2652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769203"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647180.1:n.2542G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6059,
          "referenceAllele": "G",
          "start": 6058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5435,
          "referenceAllele": "G",
          "start": 5434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5179,
          "referenceAllele": "G",
          "start": 5178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5334,
          "referenceAllele": "G",
          "start": 5333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4985,
          "referenceAllele": "G",
          "start": 4984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*4596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*4596G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5201,
          "referenceAllele": "G",
          "start": 5200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3152,
          "referenceAllele": "G",
          "start": 3151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000497886.5:n.3152G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS334013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5329,
          "referenceAllele": "G",
          "start": 5328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1611,
          "referenceAllele": "G",
          "start": 1610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569110.1:c.1611G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS246736"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000569930.1:n.2544G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5535,
          "referenceAllele": "G",
          "start": 5534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.*5G>A",
        "LRG_487t1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5334,
          "referenceAllele": "G",
          "start": 5333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5466,
          "referenceAllele": "G",
          "start": 5465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5387,
          "referenceAllele": "G",
          "start": 5386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5318,
          "referenceAllele": "G",
          "start": 5317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5570,
          "referenceAllele": "G",
          "start": 5569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5567,
          "referenceAllele": "G",
          "start": 5566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5531,
          "referenceAllele": "G",
          "start": 5530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5441,
          "referenceAllele": "G",
          "start": 5440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5438,
          "referenceAllele": "G",
          "start": 5437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5279,
          "referenceAllele": "G",
          "start": 5278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5629,
          "referenceAllele": "G",
          "start": 5628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5428,
          "referenceAllele": "G",
          "start": 5427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5560,
          "referenceAllele": "G",
          "start": 5559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5320,
          "referenceAllele": "G",
          "start": 5319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5264,
          "referenceAllele": "G",
          "start": 5263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5123,
          "referenceAllele": "G",
          "start": 5122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5329,
          "referenceAllele": "G",
          "start": 5328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5431,
          "referenceAllele": "G",
          "start": 5430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5410,
          "referenceAllele": "G",
          "start": 5409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5318,
          "referenceAllele": "G",
          "start": 5317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5570,
          "referenceAllele": "G",
          "start": 5569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5567,
          "referenceAllele": "G",
          "start": 5566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5663,
          "referenceAllele": "G",
          "start": 5662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5441,
          "referenceAllele": "G",
          "start": 5440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5438,
          "referenceAllele": "G",
          "start": 5437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5513,
          "referenceAllele": "G",
          "start": 5512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5384,
          "referenceAllele": "G",
          "start": 5383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5411,
          "referenceAllele": "G",
          "start": 5410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5657,
          "referenceAllele": "G",
          "start": 5656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5402,
          "referenceAllele": "G",
          "start": 5401
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5539,
          "referenceAllele": "G",
          "start": 5538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.*5G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.*5G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:n.*5G>A"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:n.*5G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5407,
          "referenceAllele": "G",
          "start": 5406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5398,
          "referenceAllele": "G",
          "start": 5397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5338,
          "referenceAllele": "G",
          "start": 5337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5470,
          "referenceAllele": "G",
          "start": 5469
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5230,
          "referenceAllele": "G",
          "start": 5229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5174,
          "referenceAllele": "G",
          "start": 5173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5033,
          "referenceAllele": "G",
          "start": 5032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5329,
          "referenceAllele": "G",
          "start": 5328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5341,
          "referenceAllele": "G",
          "start": 5340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5410,
          "referenceAllele": "G",
          "start": 5409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.*5G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:n.*5G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}