{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA022910",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=58546[alleleid]",
        "alleleId": 58546,
        "preferredName": "NM_000548.5(TSC2):c.736A>G (p.Thr246Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/49384",
        "RCV": [
          "RCV000042644",
          "RCV000554931",
          "RCV000612409",
          "RCV002288539",
          "RCV002381326",
          "RCV003460556"
        ],
        "variationId": 49384
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2106732-A-G",
        "id": "16-2106732-A-G",
        "variant": "16:2106732 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2106732A>G?assembly=hg19",
        "id": "chr16:g.2106732A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2056731A>G?assembly=hg38",
        "id": "chr16:g.2056731A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137854123",
        "rs": 137854123
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2106732-A-G?dataset=gnomad_r2_1",
        "id": "16-2106732-A-G",
        "variant": "16:2106732 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2056731-A-G?dataset=gnomad_r4",
        "id": "16-2056731-A-G",
        "variant": "16:2056731 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2056731,
          "referenceAllele": "A",
          "start": 2056730
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2056731A>G",
        "CM000678.2:g.2056731A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2106732,
          "referenceAllele": "A",
          "start": 2106731
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2106732A>G",
        "CM000678.1:g.2106732A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2046733,
          "referenceAllele": "A",
          "start": 2046732
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2046733A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12426,
          "referenceAllele": "A",
          "start": 12425
        }
      ],
      "hgvs": [
        "NG_005895.1:g.12426A>G",
        "LRG_487:g.12426A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 847,
          "referenceAllele": "A",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000455997.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 897,
          "referenceAllele": "A",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.781A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Thr261Ala",
        "hgvsWellDefined": "ENSP00000495146.2:p.Thr261Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 807,
          "referenceAllele": "A",
          "start": 806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000495459.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "referenceAllele": "A",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*173A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*173A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "A",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*341A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*341A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000219476.3:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.736A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.736A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Thr246Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Thr246Ala"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000344383.4:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000384468.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 188,
          "referenceAllele": "A",
          "start": 187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000467949.2:n.188A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.769A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Thr257Ala",
        "hgvsWellDefined": "ENSP00000454487.1:p.Thr257Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 788,
          "referenceAllele": "A",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000495099.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "A",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000493846.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 781,
          "referenceAllele": "A",
          "start": 780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642812.1:n.781A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766936"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 845,
          "referenceAllele": "A",
          "start": 844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000494514.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "A",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000494747.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "referenceAllele": "A",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643149.1:n.1689A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1035,
          "referenceAllele": "A",
          "start": 1034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643298.1:c.*238A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494393.1:n.*238A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643745.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495948.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000495948.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 854,
          "referenceAllele": "A",
          "start": 853
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000495927.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 790,
          "referenceAllele": "A",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000496262.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 848,
          "referenceAllele": "A",
          "start": 847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644135.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495644.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000495644.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644222.1:n.823A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "A",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000496611.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "A",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000496317.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 729,
          "referenceAllele": "A",
          "start": 728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.729A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "referenceAllele": "A",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.1:c.434A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.1:n.434A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767806"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 853,
          "referenceAllele": "A",
          "start": 852
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644665.1:n.853A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767927"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1707,
          "referenceAllele": "A",
          "start": 1706
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645591.1:n.1707A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768448"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "A",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000495921.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1124,
          "referenceAllele": "A",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646823.1:n.1124A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769082"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1437,
          "referenceAllele": "A",
          "start": 1436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647234.1:n.1437A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769302"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1404,
          "referenceAllele": "A",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000647242.1:n.1404A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1366,
          "referenceAllele": "A",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000219476.3:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000344383.4:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 684,
          "referenceAllele": "A",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.589A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Thr197Ala",
        "hgvsWellDefined": "ENSP00000371978.6:p.Thr197Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Thr246Ala",
        "hgvsWellDefined": "ENSP00000384468.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*35A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*35A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 706,
          "referenceAllele": "A",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.625A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Thr209Ala",
        "hgvsWellDefined": "ENSP00000399232.2:p.Thr209Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 172,
          "referenceAllele": "A",
          "start": 171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000467949.1:c.172A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454997.1:p.Thr58Ala",
        "hgvsWellDefined": "ENSP00000454997.1:p.Thr58Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.769A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Thr257Ala",
        "hgvsWellDefined": "ENSP00000454487.1:p.Thr257Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262636",
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.736A>G",
        "LRG_487t1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr246Ala",
        "hgvsWellDefined": "NP_000539.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825434772",
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001070651.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825572622",
      "coordinates": [
        {
          "allele": "G",
          "end": 842,
          "referenceAllele": "A",
          "start": 841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001107854.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Thr246Ala",
        "hgvsWellDefined": "XP_005255586.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Thr246Ala",
        "hgvsWellDefined": "XP_005255588.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_011520938.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_011520939.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.625A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Thr209Ala",
        "hgvsWellDefined": "XP_011520940.1:p.Thr209Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_011520941.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_011520942.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.625A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Thr209Ala",
        "hgvsWellDefined": "XP_011520943.1:p.Thr209Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262636",
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr246Ala",
        "hgvsWellDefined": "NP_000539.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825434772",
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001070651.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825572622",
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001107854.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827000573",
      "coordinates": [
        {
          "allele": "G",
          "end": 825,
          "referenceAllele": "A",
          "start": 824
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.625A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Thr209Ala",
        "hgvsWellDefined": "NP_001305756.1:p.Thr209Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010846",
      "coordinates": [
        {
          "allele": "G",
          "end": 769,
          "referenceAllele": "A",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.589A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Thr197Ala",
        "hgvsWellDefined": "NP_001305758.1:p.Thr197Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022935",
      "coordinates": [
        {
          "allele": "G",
          "end": 562,
          "referenceAllele": "A",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.136A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Thr46Ala",
        "hgvsWellDefined": "NP_001305760.1:p.Thr46Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827017241",
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.769A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Thr257Ala",
        "hgvsWellDefined": "NP_001305761.1:p.Thr257Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828090379",
      "coordinates": [
        {
          "allele": "G",
          "end": 936,
          "referenceAllele": "A",
          "start": 935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001350457.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829971892",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Thr246Ala",
        "hgvsWellDefined": "NP_066399.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Thr246Ala",
        "hgvsWellDefined": "XP_005255588.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_011520938.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_011520939.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.898A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Thr300Ala",
        "hgvsWellDefined": "XP_011520940.2:p.Thr300Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_011520941.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_011520942.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_016879104.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_016879105.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 916,
          "referenceAllele": "A",
          "start": 915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.898A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Thr300Ala",
        "hgvsWellDefined": "XP_016879106.1:p.Thr300Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.-696A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:n.-696A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "A",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Thr246Ala",
        "hgvsWellDefined": "XP_024306181.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262636",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Thr246Ala",
        "hgvsWellDefined": "NP_000539.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.736A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.736A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Thr246Ala"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Thr246Ala"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828410493",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001357333.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828416629",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001357334.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825434772",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001070651.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825572622",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001107854.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827000573",
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "referenceAllele": "A",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.625A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Thr209Ala",
        "hgvsWellDefined": "NP_001305756.1:p.Thr209Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827010846",
      "coordinates": [
        {
          "allele": "G",
          "end": 679,
          "referenceAllele": "A",
          "start": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.589A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Thr197Ala",
        "hgvsWellDefined": "NP_001305758.1:p.Thr197Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916022935",
      "coordinates": [
        {
          "allele": "G",
          "end": 472,
          "referenceAllele": "A",
          "start": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.136A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Thr46Ala",
        "hgvsWellDefined": "NP_001305760.1:p.Thr46Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827017241",
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.769A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Thr257Ala",
        "hgvsWellDefined": "NP_001305761.1:p.Thr257Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828090379",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Thr246Ala",
        "hgvsWellDefined": "NP_001350457.1:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829971892",
      "coordinates": [
        {
          "allele": "G",
          "end": 846,
          "referenceAllele": "A",
          "start": 845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.736A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Thr246Ala",
        "hgvsWellDefined": "NP_066399.2:p.Thr246Ala"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}