{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752721652",
  "communityStandardTitle": [
    "NM_016203.4(PRKAG2):c.1390G= (p.Asp464=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397517264",
        "rs": 397517264
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 151565729,
          "referenceAllele": "C",
          "start": 151565728
        }
      ],
      "hgvs": [
        "NC_000007.14:g.151565729C=",
        "CM000669.2:g.151565729C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 151262815,
          "referenceAllele": "C",
          "start": 151262814
        }
      ],
      "hgvs": [
        "NC_000007.13:g.151262815C=",
        "CM000669.1:g.151262815C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "C",
          "end": 150893748,
          "referenceAllele": "C",
          "start": 150893747
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150893748C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 316502,
          "referenceAllele": "G",
          "start": 316501
        }
      ],
      "hgvs": [
        "NG_007486.1:g.316502G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 316503,
          "referenceAllele": "G",
          "start": 316502
        }
      ],
      "hgvs": [
        "NG_007486.2:g.316503G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000478989.7:c.*126G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420645.3:n.*126G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1981,
          "referenceAllele": "G",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652321.2:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498886.2:p.Asp463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914434"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000287878.9:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287878.3:p.Asp464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287878.9:c.1390G="
          },
          "RefSeq": {
            "hgvs": "NM_016203.4:c.1390G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287878.3:p.Asp464="
          },
          "RefSeq": {
            "hgvs": "NP_057287.2:p.Asp464="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1318,
          "referenceAllele": "G",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000476632.2:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419493.2:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757195"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 491,
          "referenceAllele": "G",
          "start": 490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000478989.6:c.491G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757282"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000492843.6:c.1015G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419577.2:p.Asp339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757720"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 884,
          "referenceAllele": "G",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650851.1:n.884G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "G",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650858.1:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498384.1:p.Asp203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2319,
          "referenceAllele": "G",
          "start": 2318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650948.1:n.2319G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1305,
          "referenceAllele": "G",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651188.1:c.*503G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498557.1:n.*503G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771518"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1800,
          "referenceAllele": "G",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651303.1:c.*709G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498428.1:n.*709G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771587"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1533,
          "referenceAllele": "G",
          "start": 1532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651378.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499103.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771633"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1705,
          "referenceAllele": "G",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651764.1:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498796.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771844"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651836.1:c.1244G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499156.1:n.1244G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771882"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1606,
          "referenceAllele": "G",
          "start": 1605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651954.1:n.1606G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1504,
          "referenceAllele": "G",
          "start": 1503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652047.1:c.1255G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499111.1:p.Asp419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1937,
          "referenceAllele": "G",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652136.1:n.1937G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1489,
          "referenceAllele": "G",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652159.1:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499025.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652397.1:c.*126G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498351.1:n.*126G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1895,
          "referenceAllele": "G",
          "start": 1894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000287878.8:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287878.3:p.Asp464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000392801.6:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376549.2:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247141"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 921,
          "referenceAllele": "G",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000418337.6:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387386.2:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247142"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 487,
          "referenceAllele": "G",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000478989.5:c.*126G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420645.1:n.*126G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS319468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000492843.5:c.1018G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419577.1:p.Asp340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001040633.1:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035723.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009613"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1336,
          "referenceAllele": "G",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304527.1:c.1015G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291456.1:p.Asp339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025754"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304531.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291460.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559765",
      "coordinates": [
        {
          "allele": "G",
          "end": 2001,
          "referenceAllele": "G",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_016203.3:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "NP_057287.2:p.Asp464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034517"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "G",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_024429.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077747.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1547,
          "referenceAllele": "G",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250002.2:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250059.1:p.Asp464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059033"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250004.2:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250061.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059034"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1534,
          "referenceAllele": "G",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250006.3:c.1018G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250063.1:p.Asp340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059035"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_006716021.2:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716084.1:p.Asp460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071462"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1401,
          "referenceAllele": "G",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516282.1:c.1375G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514584.1:p.Asp459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1404,
          "referenceAllele": "G",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516283.1:c.1378G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514585.1:p.Asp460="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1401,
          "referenceAllele": "G",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516284.1:c.1375G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514586.1:p.Asp459="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083487"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1246,
          "referenceAllele": "G",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516285.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514587.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083488"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "referenceAllele": "G",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516286.1:c.643G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514588.1:p.Asp215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083489"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "G",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516287.1:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514589.1:p.Asp203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083490"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001363698.1:c.1018G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350627.1:p.Asp340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1618,
          "referenceAllele": "G",
          "start": 1617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250002.4:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250059.1:p.Asp464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1692,
          "referenceAllele": "G",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250004.4:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250061.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533357"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2332,
          "referenceAllele": "G",
          "start": 2331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250006.5:c.1018G="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250063.1:p.Asp340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516285.2:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514587.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 832,
          "referenceAllele": "G",
          "start": 831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516286.2:c.643G="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514588.1:p.Asp215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012268.2:c.1255G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867757.1:p.Asp419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565907"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012269.1:c.1387G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867758.1:p.Asp463="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1391,
          "referenceAllele": "G",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012270.1:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867759.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565909"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1689,
          "referenceAllele": "G",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012271.2:c.1255G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867760.1:p.Asp419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565910"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1388,
          "referenceAllele": "G",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012272.1:c.1255G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867761.1:p.Asp419="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565911"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1244,
          "referenceAllele": "G",
          "start": 1243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012274.2:c.664G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867763.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012275.2:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867764.1:p.Asp203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "G",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012276.2:c.664G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867765.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565914"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 879,
          "referenceAllele": "G",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012277.2:c.643G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867766.1:p.Asp215="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565915"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1477,
          "referenceAllele": "G",
          "start": 1476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012278.1:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867767.1:p.Asp203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565916"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1622,
          "referenceAllele": "G",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012279.2:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867768.1:p.Asp203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565917"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1619,
          "referenceAllele": "G",
          "start": 1618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012280.2:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867769.1:p.Asp203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565918"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1645,
          "referenceAllele": "G",
          "start": 1644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012281.2:c.607G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867770.1:p.Asp203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565919"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1391,
          "referenceAllele": "G",
          "start": 1390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446786.1:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302554.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580436"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1718,
          "referenceAllele": "G",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446787.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302555.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1715,
          "referenceAllele": "G",
          "start": 1714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446788.1:c.664G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302556.1:p.Asp222="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580438"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1718,
          "referenceAllele": "G",
          "start": 1717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446789.1:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302557.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3073559765",
      "coordinates": [
        {
          "allele": "G",
          "end": 1885,
          "referenceAllele": "G",
          "start": 1884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_016203.4:c.1390G="
      ],
      "proteinEffect": {
        "hgvs": "NP_057287.2:p.Asp464="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287878.9:c.1390G="
          },
          "RefSeq": {
            "hgvs": "NM_016203.4:c.1390G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287878.3:p.Asp464="
          },
          "RefSeq": {
            "hgvs": "NP_057287.2:p.Asp464="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1720,
          "referenceAllele": "G",
          "start": 1719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001040633.2:c.1258G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035723.1:p.Asp420="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711659"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1285,
          "referenceAllele": "G",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304527.2:c.1015G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291456.1:p.Asp339="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717109"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1247,
          "referenceAllele": "G",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304531.2:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291460.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717110"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "G",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001363698.2:c.1018G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350627.1:p.Asp340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720783"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_024429.2:c.667G="
      ],
      "proteinEffect": {
        "hgvs": "NP_077747.1:p.Asp223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728648"
    }
  ],
  "type": "nucleotide"
}