{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1752713942",
  "communityStandardTitle": [
    "NM_016203.4(PRKAG2):c.1591C= (p.Arg531=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121908990",
        "rs": 121908990
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 151560611,
          "referenceAllele": "G",
          "start": 151560610
        }
      ],
      "hgvs": [
        "NC_000007.14:g.151560611G=",
        "CM000669.2:g.151560611G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 151257697,
          "referenceAllele": "G",
          "start": 151257696
        }
      ],
      "hgvs": [
        "NC_000007.13:g.151257697G=",
        "CM000669.1:g.151257697G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 150888630,
          "referenceAllele": "G",
          "start": 150888629
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150888630G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321620,
          "referenceAllele": "C",
          "start": 321619
        }
      ],
      "hgvs": [
        "NG_007486.1:g.321620C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 321621,
          "referenceAllele": "C",
          "start": 321620
        }
      ],
      "hgvs": [
        "NG_007486.2:g.321621C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1224,
          "referenceAllele": "C",
          "start": 1223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000478989.7:c.*327C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420645.3:n.*327C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914133"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652321.2:c.1588C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498886.2:p.Arg530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "C",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000287878.9:c.1591C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287878.3:p.Arg531="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287878.9:c.1591C="
          },
          "RefSeq": {
            "hgvs": "NM_016203.4:c.1591C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287878.3:p.Arg531="
          },
          "RefSeq": {
            "hgvs": "NP_057287.2:p.Arg531="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1519,
          "referenceAllele": "C",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000476632.2:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419493.2:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000492843.6:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419577.2:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757720"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650664.1:n.1306C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650851.1:n.1085C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1287,
          "referenceAllele": "C",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650858.1:c.808C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498384.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771354"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3977,
          "referenceAllele": "C",
          "start": 3976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650948.1:n.3977C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771393"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1506,
          "referenceAllele": "C",
          "start": 1505
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651188.1:c.*704C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498557.1:n.*704C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651303.1:c.*910C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498428.1:n.*910C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771587"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1734,
          "referenceAllele": "C",
          "start": 1733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651378.1:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499103.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771633"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1906,
          "referenceAllele": "C",
          "start": 1905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651764.1:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498796.1:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1781,
          "referenceAllele": "C",
          "start": 1780
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651836.1:c.1781C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499156.1:n.1781C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771882"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1807,
          "referenceAllele": "C",
          "start": 1806
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651954.1:n.1807C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771949"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1705,
          "referenceAllele": "C",
          "start": 1704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652047.1:c.1456C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499111.1:p.Arg486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2138,
          "referenceAllele": "C",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652136.1:n.2138C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772044"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1690,
          "referenceAllele": "C",
          "start": 1689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652159.1:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499025.1:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772053"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652397.1:c.*327C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498351.1:n.*327C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772187"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2096,
          "referenceAllele": "C",
          "start": 2095
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000287878.8:c.1591C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287878.3:p.Arg531="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247372"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1902,
          "referenceAllele": "C",
          "start": 1901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000392801.6:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376549.2:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247141"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000418337.6:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387386.2:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247142"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 243,
          "referenceAllele": "C",
          "start": 242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000479461.1:n.243C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000485183.1:n.244C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324276"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1540,
          "referenceAllele": "C",
          "start": 1539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000492843.5:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419577.1:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825367878",
      "coordinates": [
        {
          "allele": "C",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001040633.1:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035723.1:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826895281",
      "coordinates": [
        {
          "allele": "C",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304527.1:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291456.1:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826895632",
      "coordinates": [
        {
          "allele": "C",
          "end": 955,
          "referenceAllele": "C",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304531.1:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291460.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829858984",
      "coordinates": [
        {
          "allele": "C",
          "end": 2202,
          "referenceAllele": "C",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_016203.3:c.1591C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057287.2:p.Arg531="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034517"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830003551",
      "coordinates": [
        {
          "allele": "C",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_024429.1:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077747.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037767"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250002.2:c.1591C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250059.1:p.Arg531="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059033"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250004.2:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250061.1:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059034"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1735,
          "referenceAllele": "C",
          "start": 1734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250006.3:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250063.1:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059035"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_006716021.2:c.1579C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006716084.1:p.Arg527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071462"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516282.1:c.1576C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514584.1:p.Arg526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083485"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516283.1:c.1579C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514585.1:p.Arg527="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083486"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516284.1:c.1576C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514586.1:p.Arg526="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083487"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1447,
          "referenceAllele": "C",
          "start": 1446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516285.1:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514587.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 968,
          "referenceAllele": "C",
          "start": 967
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516286.1:c.844C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514588.1:p.Arg282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516287.1:c.808C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514589.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828103883",
      "coordinates": [
        {
          "allele": "C",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001363698.1:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350627.1:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523492"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1819,
          "referenceAllele": "C",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250002.4:c.1591C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250059.1:p.Arg531="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533356"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1893,
          "referenceAllele": "C",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250004.4:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250061.1:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533357"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2533,
          "referenceAllele": "C",
          "start": 2532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250006.5:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005250063.1:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533358"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516285.2:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514587.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1033,
          "referenceAllele": "C",
          "start": 1032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516286.2:c.844C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011514588.1:p.Arg282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012268.2:c.1456C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867757.1:p.Arg486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565907"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1816,
          "referenceAllele": "C",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012269.1:c.1588C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867758.1:p.Arg530="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012270.1:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867759.1:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1890,
          "referenceAllele": "C",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012271.2:c.1456C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867760.1:p.Arg486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012272.1:c.1456C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867761.1:p.Arg486="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012274.2:c.865C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867763.1:p.Arg289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1820,
          "referenceAllele": "C",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012275.2:c.808C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867764.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565913"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012276.2:c.865C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867765.1:p.Arg289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565914"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1080,
          "referenceAllele": "C",
          "start": 1079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012277.2:c.844C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867766.1:p.Arg282="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565915"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1678,
          "referenceAllele": "C",
          "start": 1677
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012278.1:c.808C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867767.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565916"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1823,
          "referenceAllele": "C",
          "start": 1822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012279.2:c.808C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867768.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565917"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1820,
          "referenceAllele": "C",
          "start": 1819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012280.2:c.808C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867769.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565918"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1846,
          "referenceAllele": "C",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012281.2:c.808C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016867770.1:p.Arg270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565919"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446786.1:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302554.1:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580436"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "C",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446787.1:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302555.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580437"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1916,
          "referenceAllele": "C",
          "start": 1915
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446788.1:c.865C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302556.1:p.Arg289="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580438"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1919,
          "referenceAllele": "C",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446789.1:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024302557.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829858984",
      "coordinates": [
        {
          "allele": "C",
          "end": 2086,
          "referenceAllele": "C",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_016203.4:c.1591C="
      ],
      "proteinEffect": {
        "hgvs": "NP_057287.2:p.Arg531="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287878.9:c.1591C="
          },
          "RefSeq": {
            "hgvs": "NM_016203.4:c.1591C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287878.3:p.Arg531="
          },
          "RefSeq": {
            "hgvs": "NP_057287.2:p.Arg531="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825367878",
      "coordinates": [
        {
          "allele": "C",
          "end": 1921,
          "referenceAllele": "C",
          "start": 1920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001040633.2:c.1459C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001035723.1:p.Arg487="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826895281",
      "coordinates": [
        {
          "allele": "C",
          "end": 1486,
          "referenceAllele": "C",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304527.2:c.1216C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291456.1:p.Arg406="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826895632",
      "coordinates": [
        {
          "allele": "C",
          "end": 1448,
          "referenceAllele": "C",
          "start": 1447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304531.2:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001291460.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828103883",
      "coordinates": [
        {
          "allele": "C",
          "end": 1489,
          "referenceAllele": "C",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001363698.2:c.1219C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001350627.1:p.Arg407="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830003551",
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "referenceAllele": "C",
          "start": 1001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_024429.2:c.868C="
      ],
      "proteinEffect": {
        "hgvs": "NP_077747.1:p.Arg290="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728648"
    }
  ],
  "type": "nucleotide"
}