{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA992849",
  "communityStandardTitle": [
    "NM_001368809.2(AMPD2):c.589C>T (p.Arg197Trp)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=215446",
        "active": true,
        "id": "COSM215446"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=271744[alleleid]",
        "alleleId": 271744,
        "preferredName": "NM_001368809.2(AMPD2):c.589C>T (p.Arg197Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/287507",
        "RCV": [
          "RCV000316938"
        ],
        "variationId": 287507
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-110169405-C-T",
        "id": "1-110169405-C-T",
        "variant": "1:110169405 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.110169405C>T?assembly=hg19",
        "id": "chr1:g.110169405C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.109626783C>T?assembly=hg38",
        "id": "chr1:g.109626783C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755344801",
        "rs": 755344801
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-110169405-C-T?dataset=gnomad_r2_1",
        "id": "1-110169405-C-T",
        "variant": "1:110169405 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-109626783-C-T?dataset=gnomad_r4",
        "id": "1-109626783-C-T",
        "variant": "1:109626783 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 109626783,
          "referenceAllele": "C",
          "start": 109626782
        }
      ],
      "hgvs": [
        "NC_000001.11:g.109626783C>T",
        "CM000663.2:g.109626783C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 110169405,
          "referenceAllele": "C",
          "start": 110169404
        }
      ],
      "hgvs": [
        "NC_000001.10:g.110169405C>T",
        "CM000663.1:g.110169405C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 109970928,
          "referenceAllele": "C",
          "start": 109970927
        }
      ],
      "hgvs": [
        "NC_000001.9:g.109970928C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11971,
          "referenceAllele": "C",
          "start": 11970
        }
      ],
      "hgvs": [
        "NG_034075.1:g.11971C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005732"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1111,
          "referenceAllele": "C",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.8:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.4:p.Arg197Trp",
        "hgvsWellDefined": "ENSP00000256578.4:p.Arg197Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.9:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.5:p.Arg197Trp",
        "hgvsWellDefined": "ENSP00000351573.5:p.Arg197Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749109"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.7:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358855.3:p.Arg197Trp",
        "hgvsWellDefined": "ENSP00000358855.3:p.Arg197Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 946,
          "referenceAllele": "C",
          "start": 945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000474459.6:n.946C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 271,
          "referenceAllele": "C",
          "start": 270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000476688.3:c.271C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437025.2:p.Arg91Trp",
        "hgvsWellDefined": "ENSP00000437025.2:p.Arg91Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 938,
          "referenceAllele": "C",
          "start": 937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000486282.7:n.938C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000524975.2:n.549C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758886"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000525415.2:n.847C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 652,
          "referenceAllele": "C",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.6:n.652C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "C",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000527846.7:n.444C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.7:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.2:p.Arg197Trp",
        "hgvsWellDefined": "ENSP00000436541.2:p.Arg197Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.589C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.589C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:p.Arg197Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:p.Arg197Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531203.6:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431975.2:p.Arg133Trp",
        "hgvsWellDefined": "ENSP00000431975.2:p.Arg133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 769,
          "referenceAllele": "C",
          "start": 768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531734.6:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433739.2:p.Arg170Trp",
        "hgvsWellDefined": "ENSP00000433739.2:p.Arg170Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "referenceAllele": "C",
          "start": 551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000652975.2:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499620.2:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000654851.1:n.431C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000655992.1:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499740.1:p.Arg133Trp",
        "hgvsWellDefined": "ENSP00000499740.1:p.Arg133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772518"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 589,
          "referenceAllele": "C",
          "start": 588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000659122.2:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499621.2:p.Arg197Trp",
        "hgvsWellDefined": "ENSP00000499621.2:p.Arg197Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000663749.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499739.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000667949.2:c.-12C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499465.2:n.-12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 782,
          "referenceAllele": "C",
          "start": 781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000668421.1:c.*530C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499362.1:n.*530C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679379.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505528.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679593.1:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505999.1:p.Arg197Trp",
        "hgvsWellDefined": "ENSP00000505999.1:p.Arg197Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779221"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679880.1:n.847C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779502"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679892.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504882.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 676,
          "referenceAllele": "C",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679981.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506422.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680132.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505950.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680148.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505994.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 847,
          "referenceAllele": "C",
          "start": 846
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680170.1:n.847C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680192.1:n.940C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 809,
          "referenceAllele": "C",
          "start": 808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680519.1:n.809C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680531.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506332.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680820.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505735.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680832.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505774.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780447"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680929.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504916.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 706,
          "referenceAllele": "C",
          "start": 705
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681108.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506701.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681121.1:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506466.1:p.Arg133Trp",
        "hgvsWellDefined": "ENSP00000506466.1:p.Arg133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681132.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506195.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 683,
          "referenceAllele": "C",
          "start": 682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681181.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506038.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681218.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505976.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "C",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681246.1:c.*245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505534.1:n.*245C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780857"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681496.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505948.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681834.1:n.666C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 666,
          "referenceAllele": "C",
          "start": 665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681862.1:c.*341C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505537.1:n.*341C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1111,
          "referenceAllele": "C",
          "start": 1110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.7:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.3:p.Arg251Trp",
        "hgvsWellDefined": "ENSP00000256578.3:p.Arg251Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000342115.8:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345498.4:p.Arg170Trp",
        "hgvsWellDefined": "ENSP00000345498.4:p.Arg170Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 560,
          "referenceAllele": "C",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.8:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.4:p.Arg176Trp",
        "hgvsWellDefined": "ENSP00000351573.4:p.Arg176Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 662,
          "referenceAllele": "C",
          "start": 661
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.6:c.662C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS267737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000393688.7:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377292.3:p.Arg132Trp",
        "hgvsWellDefined": "ENSP00000377292.3:p.Arg132Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 799,
          "referenceAllele": "C",
          "start": 798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000474459.5:c.-12C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432344.1:n.-12C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS315977"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 198,
          "referenceAllele": "C",
          "start": 197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000525415.1:n.198C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS351448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 790,
          "referenceAllele": "C",
          "start": 789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.5:n.790C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528454.5:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437164.1:p.Arg133Trp",
        "hgvsWellDefined": "ENSP00000437164.1:p.Arg133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1245,
          "referenceAllele": "C",
          "start": 1244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.5:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.1:p.Arg251Trp",
        "hgvsWellDefined": "ENSP00000436541.1:p.Arg251Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 415,
          "referenceAllele": "C",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000534144.1:n.415C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS358798"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506050",
      "coordinates": [
        {
          "allele": "T",
          "end": 1317,
          "referenceAllele": "C",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.1:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:p.Arg251Trp",
        "hgvsWellDefined": "NP_001244289.1:p.Arg251Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442079",
      "coordinates": [
        {
          "allele": "T",
          "end": 600,
          "referenceAllele": "C",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.1:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:p.Arg133Trp",
        "hgvsWellDefined": "NP_001244290.1:p.Arg133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826928886",
      "coordinates": [
        {
          "allele": "T",
          "end": 720,
          "referenceAllele": "C",
          "start": 719
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001308170.1:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295099.1:p.Arg176Trp",
        "hgvsWellDefined": "NP_001295099.1:p.Arg176Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197827",
      "coordinates": [
        {
          "allele": "T",
          "end": 1184,
          "referenceAllele": "C",
          "start": 1183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.7:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.3:p.Arg251Trp",
        "hgvsWellDefined": "NP_004028.3:p.Arg251Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830275708",
      "coordinates": [
        {
          "allele": "T",
          "end": 964,
          "referenceAllele": "C",
          "start": 963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.3:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:p.Arg170Trp",
        "hgvsWellDefined": "NP_631895.1:p.Arg170Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_203404.1:c.394C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_981949.1:p.Arg132Trp",
        "hgvsWellDefined": "NP_981949.1:p.Arg132Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_011541247.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539549.1:p.Arg322Trp",
        "hgvsWellDefined": "XP_011539549.1:p.Arg322Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_011541248.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539550.1:p.Arg322Trp",
        "hgvsWellDefined": "XP_011539550.1:p.Arg322Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_946607.1:n.987C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446431.1:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302199.1:p.Arg176Trp",
        "hgvsWellDefined": "XP_024302199.1:p.Arg176Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580095"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446432.1:c.526C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302200.1:p.Arg176Trp",
        "hgvsWellDefined": "XP_024302200.1:p.Arg176Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_002956282.1:n.1162C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645506050",
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.2:c.751C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:p.Arg251Trp",
        "hgvsWellDefined": "NP_001244289.1:p.Arg251Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828290375",
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "referenceAllele": "C",
          "start": 1292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001368809.2:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355738.1:p.Arg197Trp",
        "hgvsWellDefined": "NP_001355738.1:p.Arg197Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.589C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.589C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:p.Arg197Trp"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:p.Arg197Trp"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916003009",
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.9:c.589C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.4:p.Arg197Trp",
        "hgvsWellDefined": "NP_004028.4:p.Arg197Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442079",
      "coordinates": [
        {
          "allele": "T",
          "end": 559,
          "referenceAllele": "C",
          "start": 558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.2:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:p.Arg133Trp",
        "hgvsWellDefined": "NP_001244290.1:p.Arg133Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830275708",
      "coordinates": [
        {
          "allele": "T",
          "end": 940,
          "referenceAllele": "C",
          "start": 939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.4:c.508C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:p.Arg170Trp",
        "hgvsWellDefined": "NP_631895.1:p.Arg170Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729213"
    }
  ],
  "type": "nucleotide"
}