{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA993390",
  "communityStandardTitle": [
    "NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=32562",
        "active": true,
        "id": "COSM32562"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1332486",
        "active": true,
        "id": "COSM1332486"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1316051[alleleid]",
        "alleleId": 1316051,
        "preferredName": "NM_001368809.2(AMPD2):c.2366G>A (p.Arg789His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1325790",
        "RCV": [
          "RCV001785327"
        ],
        "variationId": 1325790
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-110173662-G-A",
        "id": "1-110173662-G-A",
        "variant": "1:110173662 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.110173662G>A?assembly=hg19",
        "id": "chr1:g.110173662G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.109631040G>A?assembly=hg38",
        "id": "chr1:g.109631040G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774256040",
        "rs": 774256040
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-110173662-G-A?dataset=gnomad_r2_1",
        "id": "1-110173662-G-A",
        "variant": "1:110173662 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-109631040-G-A?dataset=gnomad_r4",
        "id": "1-109631040-G-A",
        "variant": "1:109631040 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 109631040,
          "referenceAllele": "G",
          "start": 109631039
        }
      ],
      "hgvs": [
        "NC_000001.11:g.109631040G>A",
        "CM000663.2:g.109631040G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 110173662,
          "referenceAllele": "G",
          "start": 110173661
        }
      ],
      "hgvs": [
        "NC_000001.10:g.110173662G>A",
        "CM000663.1:g.110173662G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 109975185,
          "referenceAllele": "G",
          "start": 109975184
        }
      ],
      "hgvs": [
        "NC_000001.9:g.109975185G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 16228,
          "referenceAllele": "G",
          "start": 16227
        }
      ],
      "hgvs": [
        "NG_034075.1:g.16228G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005732"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2888,
          "referenceAllele": "G",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.8:c.2366G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.4:p.Arg789His",
        "hgvsWellDefined": "ENSP00000256578.4:p.Arg789His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.9:c.2255G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.5:p.Arg752His",
        "hgvsWellDefined": "ENSP00000351573.5:p.Arg752His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2472,
          "referenceAllele": "G",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.7:c.2399G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358855.3:p.Arg800His",
        "hgvsWellDefined": "ENSP00000358855.3:p.Arg800His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2985,
          "referenceAllele": "G",
          "start": 2984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000474459.6:n.2985G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2048,
          "referenceAllele": "G",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000476688.3:c.2048G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437025.2:p.Arg683His",
        "hgvsWellDefined": "ENSP00000437025.2:p.Arg683His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3620,
          "referenceAllele": "G",
          "start": 3619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000486282.7:n.3620G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3149,
          "referenceAllele": "G",
          "start": 3148
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000524975.2:n.3149G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2878,
          "referenceAllele": "G",
          "start": 2877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000525415.2:n.2878G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2429,
          "referenceAllele": "G",
          "start": 2428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.6:n.2429G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "referenceAllele": "G",
          "start": 2220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000527846.7:n.2221G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.7:c.2366G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.2:p.Arg789His",
        "hgvsWellDefined": "ENSP00000436541.2:p.Arg789His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.2366G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.2366G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:p.Arg789His"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:p.Arg789His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2488,
          "referenceAllele": "G",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531203.6:c.2174G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431975.2:p.Arg725His",
        "hgvsWellDefined": "ENSP00000431975.2:p.Arg725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2546,
          "referenceAllele": "G",
          "start": 2545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531734.6:c.2285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433739.2:p.Arg762His",
        "hgvsWellDefined": "ENSP00000433739.2:p.Arg762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000652975.2:c.*1997G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499620.2:n.*1997G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000654851.1:n.2208G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2202,
          "referenceAllele": "G",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000659122.2:c.2202G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499621.2:n.2202G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2144,
          "referenceAllele": "G",
          "start": 2143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000663749.1:c.*1992G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499739.1:n.*1992G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2586,
          "referenceAllele": "G",
          "start": 2585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000667949.2:c.1766G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499465.2:p.Arg589His",
        "hgvsWellDefined": "ENSP00000499465.2:p.Arg589His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2559,
          "referenceAllele": "G",
          "start": 2558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000668421.1:c.*2307G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499362.1:n.*2307G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "G",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679379.1:c.*2118G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505528.1:n.*2118G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2620,
          "referenceAllele": "G",
          "start": 2619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679593.1:c.*475G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505999.1:n.*475G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2902,
          "referenceAllele": "G",
          "start": 2901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679880.1:n.2902G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2476,
          "referenceAllele": "G",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679892.1:c.*2134G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504882.1:n.*2134G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2715,
          "referenceAllele": "G",
          "start": 2714
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679981.1:c.*2380G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506422.1:n.*2380G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2658,
          "referenceAllele": "G",
          "start": 2657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680132.1:c.*2316G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505950.1:n.*2316G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2456,
          "referenceAllele": "G",
          "start": 2455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680148.1:c.*2114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505994.1:n.*2114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3231,
          "referenceAllele": "G",
          "start": 3230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680170.1:n.3231G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3626,
          "referenceAllele": "G",
          "start": 3625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680192.1:n.3626G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2602,
          "referenceAllele": "G",
          "start": 2601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680519.1:n.2602G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2455,
          "referenceAllele": "G",
          "start": 2454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680531.1:c.*2113G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506332.1:n.*2113G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2762,
          "referenceAllele": "G",
          "start": 2761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680820.1:c.*2420G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505735.1:n.*2420G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2791,
          "referenceAllele": "G",
          "start": 2790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680832.1:c.*2466G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505774.1:n.*2466G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2397,
          "referenceAllele": "G",
          "start": 2396
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680929.1:c.*2055G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504916.1:n.*2055G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2405,
          "referenceAllele": "G",
          "start": 2404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681108.1:c.*2040G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506701.1:n.*2040G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2342,
          "referenceAllele": "G",
          "start": 2341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681121.1:c.*1476G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506466.1:n.*1476G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2474,
          "referenceAllele": "G",
          "start": 2473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681132.1:c.*2132G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506195.1:n.*2132G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2995,
          "referenceAllele": "G",
          "start": 2994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681181.1:c.*2653G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506038.1:n.*2653G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2960,
          "referenceAllele": "G",
          "start": 2959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681218.1:c.*2635G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505976.1:n.*2635G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2637,
          "referenceAllele": "G",
          "start": 2636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681246.1:c.*2022G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505534.1:n.*2022G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2964,
          "referenceAllele": "G",
          "start": 2963
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681496.1:c.*2639G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505948.1:n.*2639G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3010,
          "referenceAllele": "G",
          "start": 3009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681834.1:n.3010G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2817,
          "referenceAllele": "G",
          "start": 2816
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681862.1:c.*2492G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505537.1:n.*2492G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2888,
          "referenceAllele": "G",
          "start": 2887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.7:c.2528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.3:p.Arg843His",
        "hgvsWellDefined": "ENSP00000256578.3:p.Arg843His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2717,
          "referenceAllele": "G",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000342115.8:c.2285G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345498.4:p.Arg762His",
        "hgvsWellDefined": "ENSP00000345498.4:p.Arg762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "G",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.8:c.2303G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.4:p.Arg768His",
        "hgvsWellDefined": "ENSP00000351573.4:p.Arg768His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2472,
          "referenceAllele": "G",
          "start": 2471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.6:c.2472G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS267737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000393688.7:c.2171G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377292.3:p.Arg724His",
        "hgvsWellDefined": "ENSP00000377292.3:p.Arg724His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 583,
          "referenceAllele": "G",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000476688.2:c.583G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 690,
          "referenceAllele": "G",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000479919.1:n.690G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2551,
          "referenceAllele": "G",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528454.5:c.2174G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437164.1:p.Arg725His",
        "hgvsWellDefined": "ENSP00000437164.1:p.Arg725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3022,
          "referenceAllele": "G",
          "start": 3021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.5:c.2528G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.1:p.Arg843His",
        "hgvsWellDefined": "ENSP00000436541.1:p.Arg843His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 254,
          "referenceAllele": "G",
          "start": 253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528958.1:n.254G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS354415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3094,
          "referenceAllele": "G",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.1:c.2528G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:p.Arg843His",
        "hgvsWellDefined": "NP_001244289.1:p.Arg843His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442358",
      "coordinates": [
        {
          "allele": "A",
          "end": 2377,
          "referenceAllele": "G",
          "start": 2376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.1:c.2174G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:p.Arg725His",
        "hgvsWellDefined": "NP_001244290.1:p.Arg725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826929070",
      "coordinates": [
        {
          "allele": "A",
          "end": 2497,
          "referenceAllele": "G",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001308170.1:c.2303G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295099.1:p.Arg768His",
        "hgvsWellDefined": "NP_001295099.1:p.Arg768His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2961,
          "referenceAllele": "G",
          "start": 2960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.7:c.2528G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.3:p.Arg843His",
        "hgvsWellDefined": "NP_004028.3:p.Arg843His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830275892",
      "coordinates": [
        {
          "allele": "A",
          "end": 2741,
          "referenceAllele": "G",
          "start": 2740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.3:c.2285G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:p.Arg762His",
        "hgvsWellDefined": "NP_631895.1:p.Arg762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2379,
          "referenceAllele": "G",
          "start": 2378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_203404.1:c.2171G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_981949.1:p.Arg724His",
        "hgvsWellDefined": "NP_981949.1:p.Arg724His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2764,
          "referenceAllele": "G",
          "start": 2763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_011541247.1:c.2741G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539549.1:p.Arg914His",
        "hgvsWellDefined": "XP_011539549.1:p.Arg914His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2643,
          "referenceAllele": "G",
          "start": 2642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_946607.1:n.2643G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2939,
          "referenceAllele": "G",
          "start": 2938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446431.1:c.2303G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302199.1:p.Arg768His",
        "hgvsWellDefined": "XP_024302199.1:p.Arg768His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2861,
          "referenceAllele": "G",
          "start": 2860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446432.1:c.2225G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302200.1:p.Arg742His",
        "hgvsWellDefined": "XP_024302200.1:p.Arg742His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2818,
          "referenceAllele": "G",
          "start": 2817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_002956282.1:n.2818G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602444"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.2:c.2528G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:p.Arg843His",
        "hgvsWellDefined": "NP_001244289.1:p.Arg843His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828290558",
      "coordinates": [
        {
          "allele": "A",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001368809.2:c.2366G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355738.1:p.Arg789His",
        "hgvsWellDefined": "NP_001355738.1:p.Arg789His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.2366G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.2366G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:p.Arg789His"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:p.Arg789His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573084435",
      "coordinates": [
        {
          "allele": "A",
          "end": 2400,
          "referenceAllele": "G",
          "start": 2399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.9:c.2366G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.4:p.Arg789His",
        "hgvsWellDefined": "NP_004028.4:p.Arg789His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442358",
      "coordinates": [
        {
          "allele": "A",
          "end": 2336,
          "referenceAllele": "G",
          "start": 2335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.2:c.2174G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:p.Arg725His",
        "hgvsWellDefined": "NP_001244290.1:p.Arg725His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830275892",
      "coordinates": [
        {
          "allele": "A",
          "end": 2717,
          "referenceAllele": "G",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.4:c.2285G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:p.Arg762His",
        "hgvsWellDefined": "NP_631895.1:p.Arg762His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729213"
    }
  ],
  "type": "nucleotide"
}