{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA015413",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.1656A>G (p.Ala552=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=75780[alleleid]",
        "alleleId": 75780,
        "preferredName": "NM_000548.5(TSC2):c.1656A>G (p.Ala552=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/64851",
        "RCV": [
          "RCV000055049",
          "RCV000989419",
          "RCV001012581"
        ],
        "variationId": 64851
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2115576-A-G",
        "id": "16-2115576-A-G",
        "variant": "16:2115576 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2115576A>G?assembly=hg19",
        "id": "chr16:g.2115576A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2065575A>G?assembly=hg38",
        "id": "chr16:g.2065575A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/373515515",
        "rs": 373515515
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2115576-A-G?dataset=gnomad_r2_1",
        "id": "16-2115576-A-G",
        "variant": "16:2115576 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2065575-A-G?dataset=gnomad_r3",
        "id": "16-2065575-A-G",
        "variant": "16:2065575 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2065575-A-G?dataset=gnomad_r4",
        "id": "16-2065575-A-G",
        "variant": "16:2065575 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2065575,
          "referenceAllele": "A",
          "start": 2065574
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2065575A>G",
        "CM000678.2:g.2065575A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2115576,
          "referenceAllele": "A",
          "start": 2115575
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2115576A>G",
        "CM000678.1:g.2115576A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "G",
          "end": 2055577,
          "referenceAllele": "A",
          "start": 2055576
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2055577A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21270,
          "referenceAllele": "A",
          "start": 21269
        }
      ],
      "hgvs": [
        "NG_005895.1:g.21270A>G",
        "LRG_487:g.21270A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1685,
          "referenceAllele": "A",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*203A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*203A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1817,
          "referenceAllele": "A",
          "start": 1816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.1701A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:p.Ala567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1727,
          "referenceAllele": "A",
          "start": 1726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1748,
          "referenceAllele": "A",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*1093A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*1093A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1599,
          "referenceAllele": "A",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*1261A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*1261A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.1656A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.1656A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ala552="
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ala552="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "A",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.1689A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ala563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 313,
          "referenceAllele": "A",
          "start": 312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.313A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1708,
          "referenceAllele": "A",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1710,
          "referenceAllele": "A",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1765,
          "referenceAllele": "A",
          "start": 1764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "A",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1955,
          "referenceAllele": "A",
          "start": 1954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643298.1:c.*1158A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494393.1:n.*1158A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767200"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1774,
          "referenceAllele": "A",
          "start": 1773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1710,
          "referenceAllele": "A",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1768,
          "referenceAllele": "A",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644135.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495644.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1718,
          "referenceAllele": "A",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1756,
          "referenceAllele": "A",
          "start": 1755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1649,
          "referenceAllele": "A",
          "start": 1648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.1649A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "referenceAllele": "A",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644847.1:n.648A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1742,
          "referenceAllele": "A",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "A",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.669A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2286,
          "referenceAllele": "A",
          "start": 2285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1731,
          "referenceAllele": "A",
          "start": 1730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1604,
          "referenceAllele": "A",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.1509A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:p.Ala503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1344,
          "referenceAllele": "A",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*955A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*955A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1626,
          "referenceAllele": "A",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.1545A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:p.Ala515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 163,
          "referenceAllele": "A",
          "start": 162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000488675.5:n.163A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS326915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "referenceAllele": "A",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000490108.1:n.429A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 414,
          "referenceAllele": "A",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568238.1:n.414A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "A",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.1689A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:p.Ala563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 296,
          "referenceAllele": "A",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.5:c.296A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.1:n.296A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380873"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825181471",
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.1656A>G",
        "LRG_487t1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435697",
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825573612",
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "A",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "A",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.1545A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:p.Ala515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1704,
          "referenceAllele": "A",
          "start": 1703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.1545A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:p.Ala515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825181471",
      "coordinates": [
        {
          "allele": "G",
          "end": 1856,
          "referenceAllele": "A",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435697",
      "coordinates": [
        {
          "allele": "G",
          "end": 1856,
          "referenceAllele": "A",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825573612",
      "coordinates": [
        {
          "allele": "G",
          "end": 1856,
          "referenceAllele": "A",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827001569",
      "coordinates": [
        {
          "allele": "G",
          "end": 1745,
          "referenceAllele": "A",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.1545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ala515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827007144",
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "referenceAllele": "A",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.1509A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ala503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827012672",
      "coordinates": [
        {
          "allele": "G",
          "end": 1482,
          "referenceAllele": "A",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.1056A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ala352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827017778",
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "A",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.1689A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ala563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828091372",
      "coordinates": [
        {
          "allele": "G",
          "end": 1856,
          "referenceAllele": "A",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829973817",
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "referenceAllele": "A",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.1818A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:p.Ala606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "referenceAllele": "A",
          "start": 1835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.1818A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:p.Ala606="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1830,
          "referenceAllele": "A",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.312A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:p.Ala104="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1743,
          "referenceAllele": "A",
          "start": 1742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825181471",
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.1656A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.1656A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:p.Ala552="
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:p.Ala552="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828411485",
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828417624",
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825435697",
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825573612",
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827001569",
      "coordinates": [
        {
          "allele": "G",
          "end": 1655,
          "referenceAllele": "A",
          "start": 1654
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.1545A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:p.Ala515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827007144",
      "coordinates": [
        {
          "allele": "G",
          "end": 1599,
          "referenceAllele": "A",
          "start": 1598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.1509A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:p.Ala503="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827012672",
      "coordinates": [
        {
          "allele": "G",
          "end": 1392,
          "referenceAllele": "A",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.1056A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:p.Ala352="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827017778",
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "A",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.1689A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:p.Ala563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828091372",
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829973817",
      "coordinates": [
        {
          "allele": "G",
          "end": 1766,
          "referenceAllele": "A",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.1656A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:p.Ala552="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}