{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA057079",
  "communityStandardTitle": [
    "NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1263047",
        "active": true,
        "id": "COSM1263047"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=509882[alleleid]",
        "alleleId": 509882,
        "preferredName": "NM_016203.4(PRKAG2):c.432C>T (p.Pro144=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/520278",
        "RCV": [
          "RCV000618106",
          "RCV000641191",
          "RCV001163070",
          "RCV001163071",
          "RCV001171874",
          "RCV001189157",
          "RCV004002739"
        ],
        "variationId": 520278
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-151478272-G-A",
        "id": "7-151478272-G-A",
        "variant": "7:151478272 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.151478272G>A?assembly=hg19",
        "id": "chr7:g.151478272G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.151781186G>A?assembly=hg38",
        "id": "chr7:g.151781186G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/764742900",
        "rs": 764742900
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-151478272-G-A?dataset=gnomad_r2_1",
        "id": "7-151478272-G-A",
        "variant": "7:151478272 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-151781186-G-A?dataset=gnomad_r3",
        "id": "7-151781186-G-A",
        "variant": "7:151781186 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-151781186-G-A?dataset=gnomad_r4",
        "id": "7-151781186-G-A",
        "variant": "7:151781186 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 151781186,
          "referenceAllele": "G",
          "start": 151781185
        }
      ],
      "hgvs": [
        "NC_000007.14:g.151781186G>A",
        "CM000669.2:g.151781186G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 151478272,
          "referenceAllele": "G",
          "start": 151478271
        }
      ],
      "hgvs": [
        "NC_000007.13:g.151478272G>A",
        "CM000669.1:g.151478272G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "A",
          "end": 151109205,
          "referenceAllele": "G",
          "start": 151109204
        }
      ],
      "hgvs": [
        "NC_000007.12:g.151109205G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101045,
          "referenceAllele": "C",
          "start": 101044
        }
      ],
      "hgvs": [
        "NG_007486.1:g.101045C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 101046,
          "referenceAllele": "C",
          "start": 101045
        }
      ],
      "hgvs": [
        "NG_007486.2:g.101046C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733311"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1026,
          "referenceAllele": "C",
          "start": 1025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652321.2:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498886.2:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000287878.9:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287878.3:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287878.9:c.432C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016203.4:c.432C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287878.3:p.Pro144="
          },
          "RefSeq": {
            "hgvs": "NP_057287.2:p.Pro144="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 232,
          "endIntronDirection": "+",
          "endIntronOffset": 33230,
          "referenceAllele": "C",
          "start": 232,
          "startIntronDirection": "+",
          "startIntronOffset": 33229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650858.1:c.-248+33230C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498384.1:n.-248+33230C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771354"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000650948.1:n.547C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 547,
          "referenceAllele": "C",
          "start": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651188.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498557.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651303.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498428.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 609,
          "endIntronDirection": "+",
          "endIntronOffset": 33230,
          "referenceAllele": "C",
          "start": 609,
          "startIntronDirection": "+",
          "startIntronOffset": 33229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651378.1:c.-258+33230C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499103.1:n.-258+33230C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651764.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498796.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 177,
          "referenceAllele": "C",
          "start": 176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000651836.1:c.177C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499156.1:p.Pro59="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652047.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499111.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 168,
          "referenceAllele": "C",
          "start": 167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652136.1:n.168C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772044"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 531,
          "referenceAllele": "C",
          "start": 530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652159.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499025.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "referenceAllele": "C",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652321.1:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498886.1:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 783,
          "referenceAllele": "C",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652707.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498954.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000652714.1:n.605C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "referenceAllele": "C",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000287878.8:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000287878.3:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247372"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 743,
          "referenceAllele": "C",
          "start": 742
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000392801.6:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000376549.2:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247141"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "referenceAllele": "C",
          "start": 450
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000461529.1:n.451C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 937,
          "referenceAllele": "C",
          "start": 936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000481434.5:n.937C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "ENST00000488258.5:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420783.1:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326605"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825366881",
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001040633.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035723.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009613"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829858546",
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_016203.3:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057287.2:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034517"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250002.2:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250059.1:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059033"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250004.2:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250061.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059034"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_006716021.2:c.420C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716084.1:p.Pro140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516282.1:c.420C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514584.1:p.Pro140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516283.1:c.420C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514585.1:p.Pro140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516284.1:c.420C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514586.1:p.Pro140="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_011516287.1:c.-282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514589.1:n.-282C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250002.4:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250059.1:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_005250004.4:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250061.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533357"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012268.2:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867757.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 660,
          "referenceAllele": "C",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012269.1:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867758.1:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012270.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867759.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012271.2:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867760.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012272.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867761.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012275.2:c.-279C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867764.1:n.-279C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012276.2:c.-318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867765.1:n.-318C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012278.1:c.-282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867767.1:n.-282C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565916"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012279.2:c.-282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867768.1:n.-282C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012280.2:c.-279C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867769.1:n.-279C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_017012281.2:c.-305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016867770.1:n.-305C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS565919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 433,
          "referenceAllele": "C",
          "start": 432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446786.1:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302554.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446787.1:c.-318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302555.1:n.-318C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446788.1:c.-318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302556.1:n.-318C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 734,
          "referenceAllele": "C",
          "start": 733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "XM_024446789.1:c.-318C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302557.1:n.-318C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580439"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829858546",
      "coordinates": [
        {
          "allele": "T",
          "end": 927,
          "referenceAllele": "C",
          "start": 926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_016203.4:c.432C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057287.2:p.Pro144="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000287878.9:c.432C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016203.4:c.432C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000287878.3:p.Pro144="
          },
          "RefSeq": {
            "hgvs": "NP_057287.2:p.Pro144="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825366881",
      "coordinates": [
        {
          "allele": "T",
          "end": 762,
          "referenceAllele": "C",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009386",
      "geneNCBI_id": 51422,
      "geneSymbol": "PRKAG2",
      "hgvs": [
        "NM_001040633.2:c.300C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001035723.1:p.Pro100="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711659"
    }
  ],
  "type": "nucleotide"
}