{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA370070572",
  "communityStandardTitle": [
    "NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3636401",
        "active": true,
        "id": "COSM3636401"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3636402",
        "active": true,
        "id": "COSM3636402"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2905018[alleleid]",
        "alleleId": 2905018,
        "preferredName": "NM_016203.4(PRKAG2):c.1516G>A (p.Glu506Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2735109",
        "RCV": [
          "RCV003508844"
        ],
        "variationId": 2735109
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.151261232C>T?assembly=hg19",
        "id": "chr7:g.151261232C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.151564146C>T?assembly=hg38",
        "id": "chr7:g.151564146C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267606978",
        "rs": 267606978
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 151564146,
          "referenceAllele": "C",
          "start": 151564145
        }
      ],
      "hgvs": [
        "NC_000007.14:g.151564146C>T",
        "CM000669.2:g.151564146C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 151261232,
          "referenceAllele": "C",
          "start": 151261231
        }
      ],
      "hgvs": [
        "NC_000007.13:g.151261232C>T",
        "CM000669.1:g.151261232C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 150892165,
          "referenceAllele": "C",
          "start": 150892164
        }
      ],
      "hgvs": [
        "NC_000007.12:g.150892165C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318085,
          "referenceAllele": "G",
          "start": 318084
        }
      ],
      "hgvs": [
        "NG_007486.1:g.318085G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000609"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 318086,
          "referenceAllele": "G",
          "start": 318085
        }
      ],
      "hgvs": [
        "NG_007486.2:g.318086G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1149,
          "referenceAllele": "G",
          "start": 1148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000478989.7:c.*252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420645.3:n.*252G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2107,
          "referenceAllele": "G",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652321.2:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498886.2:p.Glu505Lys",
        "hgvsWellDefined": "ENSP00000498886.2:p.Glu505Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914434"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000287878.9:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287878.3:p.Glu506Lys",
        "hgvsWellDefined": "ENSP00000287878.3:p.Glu506Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287878.9:c.1516G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016203.4:c.1516G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287878.3:p.Glu506Lys"
          },
          "RefSeq": {
            "hgvs": "NP_057287.2:p.Glu506Lys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1444,
          "referenceAllele": "G",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000476632.2:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419493.2:p.Glu265Lys",
        "hgvsWellDefined": "ENSP00000419493.2:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757195"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000492843.6:c.1141G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419577.2:p.Glu381Lys",
        "hgvsWellDefined": "ENSP00000419577.2:p.Glu381Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1010,
          "referenceAllele": "G",
          "start": 1009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650851.1:n.1010G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771350"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1212,
          "referenceAllele": "G",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650858.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498384.1:p.Glu245Lys",
        "hgvsWellDefined": "ENSP00000498384.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3902,
          "referenceAllele": "G",
          "start": 3901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650948.1:n.3902G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771393"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1431,
          "referenceAllele": "G",
          "start": 1430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651188.1:c.*629G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498557.1:n.*629G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1926,
          "referenceAllele": "G",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651303.1:c.*835G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498428.1:n.*835G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771587"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1659,
          "referenceAllele": "G",
          "start": 1658
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651378.1:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499103.1:p.Glu265Lys",
        "hgvsWellDefined": "ENSP00000499103.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771633"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1831,
          "referenceAllele": "G",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651764.1:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498796.1:p.Glu462Lys",
        "hgvsWellDefined": "ENSP00000498796.1:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771844"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1706,
          "referenceAllele": "G",
          "start": 1705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651836.1:c.1706G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499156.1:n.1706G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771882"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1732,
          "referenceAllele": "G",
          "start": 1731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651954.1:n.1732G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1630,
          "referenceAllele": "G",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652047.1:c.1381G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499111.1:p.Glu461Lys",
        "hgvsWellDefined": "ENSP00000499111.1:p.Glu461Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2063,
          "referenceAllele": "G",
          "start": 2062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652136.1:n.2063G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772044"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1615,
          "referenceAllele": "G",
          "start": 1614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652159.1:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499025.1:p.Glu462Lys",
        "hgvsWellDefined": "ENSP00000499025.1:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652397.1:c.*252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498351.1:n.*252G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2021,
          "referenceAllele": "G",
          "start": 2020
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000287878.8:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287878.3:p.Glu506Lys",
        "hgvsWellDefined": "ENSP00000287878.3:p.Glu506Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247372"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1827,
          "referenceAllele": "G",
          "start": 1826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000392801.6:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376549.2:p.Glu462Lys",
        "hgvsWellDefined": "ENSP00000376549.2:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "G",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000418337.6:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387386.2:p.Glu265Lys",
        "hgvsWellDefined": "ENSP00000387386.2:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 168,
          "referenceAllele": "G",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000479461.1:n.168G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 169,
          "referenceAllele": "G",
          "start": 168
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000485183.1:n.169G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324276"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1465,
          "referenceAllele": "G",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000492843.5:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419577.1:p.Glu382Lys",
        "hgvsWellDefined": "ENSP00000419577.1:p.Glu382Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247423"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825367835",
      "coordinates": [
        {
          "allele": "A",
          "end": 1858,
          "referenceAllele": "G",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001040633.1:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035723.1:p.Glu462Lys",
        "hgvsWellDefined": "NP_001035723.1:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826895258",
      "coordinates": [
        {
          "allele": "A",
          "end": 1462,
          "referenceAllele": "G",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304527.1:c.1141G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291456.1:p.Glu381Lys",
        "hgvsWellDefined": "NP_001291456.1:p.Glu381Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025754"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826895611",
      "coordinates": [
        {
          "allele": "A",
          "end": 880,
          "referenceAllele": "G",
          "start": 879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304531.1:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291460.1:p.Glu265Lys",
        "hgvsWellDefined": "NP_001291460.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS025757"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741959096",
      "coordinates": [
        {
          "allele": "A",
          "end": 2127,
          "referenceAllele": "G",
          "start": 2126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_016203.3:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057287.2:p.Glu506Lys",
        "hgvsWellDefined": "NP_057287.2:p.Glu506Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034517"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830003509",
      "coordinates": [
        {
          "allele": "A",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_024429.1:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077747.1:p.Glu265Lys",
        "hgvsWellDefined": "NP_077747.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037767"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1673,
          "referenceAllele": "G",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250002.2:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250059.1:p.Glu506Lys",
        "hgvsWellDefined": "XP_005250059.1:p.Glu506Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059033"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "G",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250004.2:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250061.1:p.Glu462Lys",
        "hgvsWellDefined": "XP_005250061.1:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059034"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1660,
          "referenceAllele": "G",
          "start": 1659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250006.3:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250063.1:p.Glu382Lys",
        "hgvsWellDefined": "XP_005250063.1:p.Glu382Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1530,
          "referenceAllele": "G",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_006716021.2:c.1504G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716084.1:p.Glu502Lys",
        "hgvsWellDefined": "XP_006716084.1:p.Glu502Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071462"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1527,
          "referenceAllele": "G",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516282.1:c.1501G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514584.1:p.Glu501Lys",
        "hgvsWellDefined": "XP_011514584.1:p.Glu501Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083485"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1530,
          "referenceAllele": "G",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516283.1:c.1504G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514585.1:p.Glu502Lys",
        "hgvsWellDefined": "XP_011514585.1:p.Glu502Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1527,
          "referenceAllele": "G",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516284.1:c.1501G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514586.1:p.Glu501Lys",
        "hgvsWellDefined": "XP_011514586.1:p.Glu501Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083487"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1372,
          "referenceAllele": "G",
          "start": 1371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516285.1:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514587.1:p.Glu265Lys",
        "hgvsWellDefined": "XP_011514587.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 893,
          "referenceAllele": "G",
          "start": 892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516286.1:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514588.1:p.Glu257Lys",
        "hgvsWellDefined": "XP_011514588.1:p.Glu257Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083489"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516287.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514589.1:p.Glu245Lys",
        "hgvsWellDefined": "XP_011514589.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083490"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828103858",
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001363698.1:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350627.1:p.Glu382Lys",
        "hgvsWellDefined": "NP_001350627.1:p.Glu382Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523492"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1744,
          "referenceAllele": "G",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250002.4:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250059.1:p.Glu506Lys",
        "hgvsWellDefined": "XP_005250059.1:p.Glu506Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1818,
          "referenceAllele": "G",
          "start": 1817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250004.4:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250061.1:p.Glu462Lys",
        "hgvsWellDefined": "XP_005250061.1:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533357"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2458,
          "referenceAllele": "G",
          "start": 2457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250006.5:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250063.1:p.Glu382Lys",
        "hgvsWellDefined": "XP_005250063.1:p.Glu382Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533358"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516285.2:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514587.1:p.Glu265Lys",
        "hgvsWellDefined": "XP_011514587.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 958,
          "referenceAllele": "G",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516286.2:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514588.1:p.Glu257Lys",
        "hgvsWellDefined": "XP_011514588.1:p.Glu257Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544103"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "referenceAllele": "G",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012268.2:c.1381G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867757.1:p.Glu461Lys",
        "hgvsWellDefined": "XP_016867757.1:p.Glu461Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565907"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1741,
          "referenceAllele": "G",
          "start": 1740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012269.1:c.1513G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867758.1:p.Glu505Lys",
        "hgvsWellDefined": "XP_016867758.1:p.Glu505Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565908"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "G",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012270.1:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867759.1:p.Glu462Lys",
        "hgvsWellDefined": "XP_016867759.1:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565909"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1815,
          "referenceAllele": "G",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012271.2:c.1381G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867760.1:p.Glu461Lys",
        "hgvsWellDefined": "XP_016867760.1:p.Glu461Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565910"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1514,
          "referenceAllele": "G",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012272.1:c.1381G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867761.1:p.Glu461Lys",
        "hgvsWellDefined": "XP_016867761.1:p.Glu461Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565911"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1370,
          "referenceAllele": "G",
          "start": 1369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012274.2:c.790G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867763.1:p.Glu264Lys",
        "hgvsWellDefined": "XP_016867763.1:p.Glu264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012275.2:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867764.1:p.Glu245Lys",
        "hgvsWellDefined": "XP_016867764.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565913"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012276.2:c.790G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867765.1:p.Glu264Lys",
        "hgvsWellDefined": "XP_016867765.1:p.Glu264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565914"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1005,
          "referenceAllele": "G",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012277.2:c.769G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867766.1:p.Glu257Lys",
        "hgvsWellDefined": "XP_016867766.1:p.Glu257Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565915"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1603,
          "referenceAllele": "G",
          "start": 1602
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012278.1:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867767.1:p.Glu245Lys",
        "hgvsWellDefined": "XP_016867767.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565916"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1748,
          "referenceAllele": "G",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012279.2:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867768.1:p.Glu245Lys",
        "hgvsWellDefined": "XP_016867768.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565917"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1745,
          "referenceAllele": "G",
          "start": 1744
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012280.2:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867769.1:p.Glu245Lys",
        "hgvsWellDefined": "XP_016867769.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1771,
          "referenceAllele": "G",
          "start": 1770
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012281.2:c.733G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867770.1:p.Glu245Lys",
        "hgvsWellDefined": "XP_016867770.1:p.Glu245Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565919"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1517,
          "referenceAllele": "G",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446786.1:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302554.1:p.Glu462Lys",
        "hgvsWellDefined": "XP_024302554.1:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446787.1:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302555.1:p.Glu265Lys",
        "hgvsWellDefined": "XP_024302555.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580437"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1841,
          "referenceAllele": "G",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446788.1:c.790G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302556.1:p.Glu264Lys",
        "hgvsWellDefined": "XP_024302556.1:p.Glu264Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580438"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1844,
          "referenceAllele": "G",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446789.1:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302557.1:p.Glu265Lys",
        "hgvsWellDefined": "XP_024302557.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741959096",
      "coordinates": [
        {
          "allele": "A",
          "end": 2011,
          "referenceAllele": "G",
          "start": 2010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_016203.4:c.1516G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_057287.2:p.Glu506Lys",
        "hgvsWellDefined": "NP_057287.2:p.Glu506Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287878.9:c.1516G>A"
          },
          "RefSeq": {
            "hgvs": "NM_016203.4:c.1516G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287878.3:p.Glu506Lys"
          },
          "RefSeq": {
            "hgvs": "NP_057287.2:p.Glu506Lys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825367835",
      "coordinates": [
        {
          "allele": "A",
          "end": 1846,
          "referenceAllele": "G",
          "start": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001040633.2:c.1384G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035723.1:p.Glu462Lys",
        "hgvsWellDefined": "NP_001035723.1:p.Glu462Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711659"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826895258",
      "coordinates": [
        {
          "allele": "A",
          "end": 1411,
          "referenceAllele": "G",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304527.2:c.1141G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291456.1:p.Glu381Lys",
        "hgvsWellDefined": "NP_001291456.1:p.Glu381Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717109"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826895611",
      "coordinates": [
        {
          "allele": "A",
          "end": 1373,
          "referenceAllele": "G",
          "start": 1372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001304531.2:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001291460.1:p.Glu265Lys",
        "hgvsWellDefined": "NP_001291460.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717110"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828103858",
      "coordinates": [
        {
          "allele": "A",
          "end": 1414,
          "referenceAllele": "G",
          "start": 1413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001363698.2:c.1144G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350627.1:p.Glu382Lys",
        "hgvsWellDefined": "NP_001350627.1:p.Glu382Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720783"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830003509",
      "coordinates": [
        {
          "allele": "A",
          "end": 927,
          "referenceAllele": "G",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_024429.2:c.793G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_077747.1:p.Glu265Lys",
        "hgvsWellDefined": "NP_077747.1:p.Glu265Lys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728648"
    }
  ],
  "type": "nucleotide"
}