{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA156218",
  "communityStandardTitle": [
    "NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=136562[alleleid]",
        "alleleId": 136562,
        "preferredName": "NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/132813",
        "RCV": [
          "RCV000119282",
          "RCV002515805",
          "RCV003343648"
        ],
        "variationId": 132813
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-110172109-G-A",
        "id": "1-110172109-G-A",
        "variant": "1:110172109 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.110172109G>A?assembly=hg19",
        "id": "chr1:g.110172109G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.109629487G>A?assembly=hg38",
        "id": "chr1:g.109629487G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/587777395",
        "rs": 587777395
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-110172109-G-A?dataset=gnomad_r2_1",
        "id": "1-110172109-G-A",
        "variant": "1:110172109 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-109629487-G-A?dataset=gnomad_r3",
        "id": "1-109629487-G-A",
        "variant": "1:109629487 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-109629487-G-A?dataset=gnomad_r4",
        "id": "1-109629487-G-A",
        "variant": "1:109629487 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 109629487,
          "referenceAllele": "G",
          "start": 109629486
        }
      ],
      "hgvs": [
        "NC_000001.11:g.109629487G>A",
        "CM000663.2:g.109629487G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 110172109,
          "referenceAllele": "G",
          "start": 110172108
        }
      ],
      "hgvs": [
        "NC_000001.10:g.110172109G>A",
        "CM000663.1:g.110172109G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 109973632,
          "referenceAllele": "G",
          "start": 109973631
        }
      ],
      "hgvs": [
        "NC_000001.9:g.109973632G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 14675,
          "referenceAllele": "G",
          "start": 14674
        }
      ],
      "hgvs": [
        "NG_034075.1:g.14675G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005732"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "referenceAllele": "G",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.8:c.1859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.4:p.Arg620His",
        "hgvsWellDefined": "ENSP00000256578.4:p.Arg620His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1859,
          "referenceAllele": "G",
          "start": 1858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.9:c.1859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.5:p.Arg620His",
        "hgvsWellDefined": "ENSP00000351573.5:p.Arg620His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749109"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.7:c.1859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000358855.3:p.Arg620His",
        "hgvsWellDefined": "ENSP00000358855.3:p.Arg620His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750484"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2478,
          "referenceAllele": "G",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000474459.6:n.2478G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1541,
          "referenceAllele": "G",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000476688.3:c.1541G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437025.2:p.Arg514His",
        "hgvsWellDefined": "ENSP00000437025.2:p.Arg514His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757197"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3116,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 3116,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000486282.7:n.3116+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2642,
          "referenceAllele": "G",
          "start": 2641
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000524975.2:n.2642G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2374,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2374,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000525415.2:n.2374+1G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1922,
          "referenceAllele": "G",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.6:n.1922G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1714,
          "referenceAllele": "G",
          "start": 1713
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000527846.7:n.1714G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759052"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "G",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.7:c.1859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.2:p.Arg620His",
        "hgvsWellDefined": "ENSP00000436541.2:p.Arg620His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759088",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.1859G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.1859G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:p.Arg620His"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:p.Arg620His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1981,
          "referenceAllele": "G",
          "start": 1980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531203.6:c.1667G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431975.2:p.Arg556His",
        "hgvsWellDefined": "ENSP00000431975.2:p.Arg556His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759222"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2039,
          "referenceAllele": "G",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000531734.6:c.1778G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433739.2:p.Arg593His",
        "hgvsWellDefined": "ENSP00000433739.2:p.Arg593His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000652975.2:c.*1611G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499620.2:n.*1611G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000654851.1:n.1701G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772478"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000655992.1:c.1667G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499740.1:p.Arg556His",
        "hgvsWellDefined": "ENSP00000499740.1:p.Arg556His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772518"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1695,
          "referenceAllele": "G",
          "start": 1694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000659122.2:c.1695G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499621.2:n.1695G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772647"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1758,
          "referenceAllele": "G",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000663749.1:c.*1606G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499739.1:n.*1606G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772828"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2079,
          "referenceAllele": "G",
          "start": 2078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000667949.2:c.1259G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499465.2:p.Arg420His",
        "hgvsWellDefined": "ENSP00000499465.2:p.Arg420His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2052,
          "referenceAllele": "G",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000668421.1:c.*1800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499362.1:n.*1800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "referenceAllele": "G",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679379.1:c.*1611G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505528.1:n.*1611G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2116,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2116,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679593.1:c.1858+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505999.1:n.1858+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779221"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2395,
          "referenceAllele": "G",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679880.1:n.2395G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779502"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1969,
          "referenceAllele": "G",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679892.1:c.*1627G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504882.1:n.*1627G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "referenceAllele": "G",
          "start": 2207
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000679981.1:c.*1873G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506422.1:n.*1873G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2151,
          "referenceAllele": "G",
          "start": 2150
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680132.1:c.*1809G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505950.1:n.*1809G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779753"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1952,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1952,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680148.1:c.*1610+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505994.1:n.*1610+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779768"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2724,
          "referenceAllele": "G",
          "start": 2723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680170.1:n.2724G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3119,
          "referenceAllele": "G",
          "start": 3118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680192.1:n.3119G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779812"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2095,
          "referenceAllele": "G",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680519.1:n.2095G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1948,
          "referenceAllele": "G",
          "start": 1947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680531.1:c.*1606G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506332.1:n.*1606G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780147"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2255,
          "referenceAllele": "G",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680820.1:c.*1913G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505735.1:n.*1913G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780435"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2284,
          "referenceAllele": "G",
          "start": 2283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680832.1:c.*1959G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505774.1:n.*1959G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1890,
          "referenceAllele": "G",
          "start": 1889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000680929.1:c.*1548G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504916.1:n.*1548G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1898,
          "referenceAllele": "G",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681108.1:c.*1533G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506701.1:n.*1533G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780720"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1835,
          "referenceAllele": "G",
          "start": 1834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681121.1:c.*969G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506466.1:n.*969G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1967,
          "referenceAllele": "G",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681132.1:c.*1625G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506195.1:n.*1625G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780744"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2488,
          "referenceAllele": "G",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681181.1:c.*2146G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506038.1:n.*2146G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780792"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2456,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 2456,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681218.1:c.*2131+1G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505976.1:n.*2131+1G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780829"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2130,
          "referenceAllele": "G",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681246.1:c.*1515G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505534.1:n.*1515G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2457,
          "referenceAllele": "G",
          "start": 2456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681496.1:c.*2132G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505948.1:n.*2132G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2198,
          "referenceAllele": "G",
          "start": 2197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681834.1:n.2198G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781436"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2310,
          "referenceAllele": "G",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000681862.1:c.*1985G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505537.1:n.*1985G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2381,
          "referenceAllele": "G",
          "start": 2380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000256578.7:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000256578.3:p.Arg674His",
        "hgvsWellDefined": "ENSP00000256578.3:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000342115.8:c.1778G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345498.4:p.Arg593His",
        "hgvsWellDefined": "ENSP00000345498.4:p.Arg593His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261486"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1830,
          "referenceAllele": "G",
          "start": 1829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000358729.8:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351573.4:p.Arg599His",
        "hgvsWellDefined": "ENSP00000351573.4:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1932,
          "referenceAllele": "G",
          "start": 1931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000369840.6:c.1932G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS267737"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1701,
          "referenceAllele": "G",
          "start": 1700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000393688.7:c.1664G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377292.3:p.Arg555His",
        "hgvsWellDefined": "ENSP00000377292.3:p.Arg555His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275758"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 187,
          "referenceAllele": "G",
          "start": 186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000476688.2:c.187G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS317678"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 304,
          "referenceAllele": "G",
          "start": 303
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000479919.1:n.304G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2060,
          "referenceAllele": "G",
          "start": 2059
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000526301.5:n.2060G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352192"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2044,
          "referenceAllele": "G",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528454.5:c.1667G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437164.1:p.Arg556His",
        "hgvsWellDefined": "ENSP00000437164.1:p.Arg556His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS353994"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2515,
          "referenceAllele": "G",
          "start": 2514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000528667.5:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436541.1:p.Arg674His",
        "hgvsWellDefined": "ENSP00000436541.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS354174"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000532851.1:n.660G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357708"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "ENST00000533132.1:n.652G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS357948"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112848",
      "coordinates": [
        {
          "allele": "A",
          "end": 2587,
          "referenceAllele": "G",
          "start": 2586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.1:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:p.Arg674His",
        "hgvsWellDefined": "NP_001244289.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442289",
      "coordinates": [
        {
          "allele": "A",
          "end": 1870,
          "referenceAllele": "G",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.1:c.1667G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:p.Arg556His",
        "hgvsWellDefined": "NP_001244290.1:p.Arg556His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826929019",
      "coordinates": [
        {
          "allele": "A",
          "end": 1990,
          "referenceAllele": "G",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001308170.1:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001295099.1:p.Arg599His",
        "hgvsWellDefined": "NP_001295099.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS026191"
    },
    {
      "@id": "http://reg.genome.network/allele/PA913197834",
      "coordinates": [
        {
          "allele": "A",
          "end": 2454,
          "referenceAllele": "G",
          "start": 2453
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.7:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.3:p.Arg674His",
        "hgvsWellDefined": "NP_004028.3:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029227"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830275841",
      "coordinates": [
        {
          "allele": "A",
          "end": 2234,
          "referenceAllele": "G",
          "start": 2233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.3:c.1778G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:p.Arg593His",
        "hgvsWellDefined": "NP_631895.1:p.Arg593His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS040995"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1872,
          "referenceAllele": "G",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_203404.1:c.1664G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_981949.1:p.Arg555His",
        "hgvsWellDefined": "NP_981949.1:p.Arg555His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS045190"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_011541247.1:c.2234G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539549.1:p.Arg745His",
        "hgvsWellDefined": "XP_011539549.1:p.Arg745His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2257,
          "referenceAllele": "G",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_946607.1:n.2257G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140191"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446431.1:c.1796G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302199.1:p.Arg599His",
        "hgvsWellDefined": "XP_024302199.1:p.Arg599His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580095"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2354,
          "referenceAllele": "G",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XM_024446432.1:c.1718G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302200.1:p.Arg573His",
        "hgvsWellDefined": "XP_024302200.1:p.Arg573His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2432,
          "referenceAllele": "G",
          "start": 2431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "XR_002956282.1:n.2432G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA112848",
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "G",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257360.2:c.2021G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244289.1:p.Arg674His",
        "hgvsWellDefined": "NP_001244289.1:p.Arg674His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664098"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828290510",
      "coordinates": [
        {
          "allele": "A",
          "end": 2563,
          "referenceAllele": "G",
          "start": 2562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001368809.2:c.1859G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001355738.1:p.Arg620His",
        "hgvsWellDefined": "NP_001355738.1:p.Arg620His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691440",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000528667.7:c.1859G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001368809.2:c.1859G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000436541.2:p.Arg620His"
          },
          "RefSeq": {
            "hgvs": "NP_001355738.1:p.Arg620His"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916003032",
      "coordinates": [
        {
          "allele": "A",
          "end": 1893,
          "referenceAllele": "G",
          "start": 1892
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_004037.9:c.1859G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004028.4:p.Arg620His",
        "hgvsWellDefined": "NP_004028.4:p.Arg620His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696030"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826442289",
      "coordinates": [
        {
          "allele": "A",
          "end": 1829,
          "referenceAllele": "G",
          "start": 1828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_001257361.2:c.1667G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244290.1:p.Arg556His",
        "hgvsWellDefined": "NP_001244290.1:p.Arg556His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714882"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830275841",
      "coordinates": [
        {
          "allele": "A",
          "end": 2210,
          "referenceAllele": "G",
          "start": 2209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NM_139156.4:c.1778G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_631895.1:p.Arg593His",
        "hgvsWellDefined": "NP_631895.1:p.Arg593His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729213"
    }
  ],
  "type": "nucleotide"
}