{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2057570",
  "communityStandardTitle": [
    "NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=127304",
        "active": true,
        "id": "COSM127304"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=287072[alleleid]",
        "alleleId": 287072,
        "preferredName": "NM_020919.4(ALS2):c.4416G>A (p.Thr1472=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/333585",
        "RCV": [
          "RCV000276464",
          "RCV000370877",
          "RCV000862055",
          "RCV001289226",
          "RCV001571366"
        ],
        "variationId": 333585
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-202571733-C-T",
        "id": "2-202571733-C-T",
        "variant": "2:202571733 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202571733C>T?assembly=hg19",
        "id": "chr2:g.202571733C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.201707010C>T?assembly=hg38",
        "id": "chr2:g.201707010C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/200202953",
        "rs": 200202953
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-202571733-C-T?dataset=gnomad_r2_1",
        "id": "2-202571733-C-T",
        "variant": "2:202571733 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-201707010-C-T?dataset=gnomad_r3",
        "id": "2-201707010-C-T",
        "variant": "2:201707010 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-201707010-C-T?dataset=gnomad_r4",
        "id": "2-201707010-C-T",
        "variant": "2:201707010 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 201707010,
          "referenceAllele": "C",
          "start": 201707009
        }
      ],
      "hgvs": [
        "NC_000002.12:g.201707010C>T",
        "CM000664.2:g.201707010C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 202571733,
          "referenceAllele": "C",
          "start": 202571732
        }
      ],
      "hgvs": [
        "NC_000002.11:g.202571733C>T",
        "CM000664.1:g.202571733C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 202279978,
          "referenceAllele": "C",
          "start": 202279977
        }
      ],
      "hgvs": [
        "NC_000002.10:g.202279978C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 79163,
          "referenceAllele": "G",
          "start": 79162
        }
      ],
      "hgvs": [
        "NG_008775.1:g.79163G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001208"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4533,
          "referenceAllele": "G",
          "start": 4532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000264276.11:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264276.6:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264276.11:c.4416G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020919.4:c.4416G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264276.6:p.Thr1472="
          },
          "RefSeq": {
            "hgvs": "NP_065970.2:p.Thr1472="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2657,
          "referenceAllele": "G",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000439495.6:c.*596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403832.2:n.*596G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2800,
          "referenceAllele": "G",
          "start": 2799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679409.1:c.*886G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506531.1:n.*886G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5920,
          "referenceAllele": "G",
          "start": 5919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679416.1:n.5920G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1852,
          "referenceAllele": "G",
          "start": 1851
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679427.1:n.1852G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4758,
          "referenceAllele": "G",
          "start": 4757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679435.1:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505218.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4674,
          "referenceAllele": "G",
          "start": 4673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679516.1:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505187.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4762,
          "referenceAllele": "G",
          "start": 4761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679618.1:c.*1504G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506274.1:n.*1504G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6265,
          "referenceAllele": "G",
          "start": 6264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679630.1:n.6265G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2443,
          "referenceAllele": "G",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679635.1:n.2443G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4530,
          "referenceAllele": "G",
          "start": 4529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679686.1:n.4530G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7408,
          "referenceAllele": "G",
          "start": 7407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679701.1:n.7408G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4901,
          "referenceAllele": "G",
          "start": 4900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679916.1:c.*764G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506172.1:n.*764G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4758,
          "referenceAllele": "G",
          "start": 4757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680000.1:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506173.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779622"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4693,
          "referenceAllele": "G",
          "start": 4692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680135.1:c.*2377G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506211.1:n.*2377G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4755,
          "referenceAllele": "G",
          "start": 4754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680149.1:c.4413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506497.1:p.Thr1471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4800,
          "referenceAllele": "G",
          "start": 4799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680163.1:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505092.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5107,
          "referenceAllele": "G",
          "start": 5106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680174.1:n.5107G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4687,
          "referenceAllele": "G",
          "start": 4686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680236.1:c.*1477G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506212.1:n.*1477G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2974,
          "referenceAllele": "G",
          "start": 2973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680441.1:n.2974G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4776,
          "referenceAllele": "G",
          "start": 4775
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680497.1:c.4518G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505954.1:p.Thr1506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4755,
          "referenceAllele": "G",
          "start": 4754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680508.1:c.4413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505749.1:p.Thr1471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4845,
          "referenceAllele": "G",
          "start": 4844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680569.1:c.*2124G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505522.1:n.*2124G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "G",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680634.1:n.924G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2216,
          "referenceAllele": "G",
          "start": 2215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680722.1:n.2216G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4758,
          "referenceAllele": "G",
          "start": 4757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680726.1:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505505.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4590,
          "referenceAllele": "G",
          "start": 4589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680759.1:c.4248G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505848.1:p.Thr1416="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4758,
          "referenceAllele": "G",
          "start": 4757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680814.1:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505710.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4699,
          "referenceAllele": "G",
          "start": 4698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680828.1:c.*2110G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505249.1:n.*2110G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4907,
          "referenceAllele": "G",
          "start": 4906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680861.1:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505043.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4880,
          "referenceAllele": "G",
          "start": 4879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680927.1:c.*596G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505473.1:n.*596G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4758,
          "referenceAllele": "G",
          "start": 4757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680939.1:n.4758G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780553"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2981,
          "referenceAllele": "G",
          "start": 2980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681250.1:c.*1133G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505684.1:n.*1133G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4828,
          "referenceAllele": "G",
          "start": 4827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681256.1:c.*2431G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505446.1:n.*2431G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5282,
          "referenceAllele": "G",
          "start": 5281
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681279.1:n.5282G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5529,
          "referenceAllele": "G",
          "start": 5528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681307.1:n.5529G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5184,
          "referenceAllele": "G",
          "start": 5183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681461.1:n.5184G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2394,
          "referenceAllele": "G",
          "start": 2393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681495.1:c.1953G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506085.1:p.Thr651="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2535,
          "referenceAllele": "G",
          "start": 2534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681558.1:c.2094G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505568.1:p.Thr698="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4755,
          "referenceAllele": "G",
          "start": 4754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681619.1:c.4413G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505071.1:p.Thr1471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681663.1:n.1322G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2376,
          "referenceAllele": "G",
          "start": 2375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681692.1:n.2376G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4991,
          "referenceAllele": "G",
          "start": 4990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681716.1:c.*2270G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505078.1:n.*2270G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4861,
          "referenceAllele": "G",
          "start": 4860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681768.1:c.*2080G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506311.1:n.*2080G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4745,
          "endIntronDirection": "+",
          "endIntronOffset": 859,
          "referenceAllele": "G",
          "start": 4745,
          "startIntronDirection": "+",
          "startIntronOffset": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681808.1:c.4403+859G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505219.1:n.4403+859G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4789,
          "referenceAllele": "G",
          "start": 4788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000264276.10:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264276.6:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2520,
          "referenceAllele": "G",
          "start": 2519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000439495.5:c.2520G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS295450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829935921",
      "coordinates": [
        {
          "allele": "A",
          "end": 4772,
          "referenceAllele": "G",
          "start": 4771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_020919.3:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065970.2:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4548,
          "referenceAllele": "G",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_005246709.2:c.4413G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246766.1:p.Thr1471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4581,
          "referenceAllele": "G",
          "start": 4580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712654.1:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712717.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2507,
          "referenceAllele": "G",
          "start": 2506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712655.2:c.2352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712718.1:p.Thr784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4495,
          "referenceAllele": "G",
          "start": 4494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_011511530.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509832.1:p.Thr1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4694,
          "referenceAllele": "G",
          "start": 4693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_922974.1:n.4694G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5376,
          "referenceAllele": "G",
          "start": 5375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712654.3:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712717.1:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2986,
          "referenceAllele": "G",
          "start": 2985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712655.3:c.2352G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712718.1:p.Thr784="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4548,
          "referenceAllele": "G",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004569.2:c.4413G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860058.1:p.Thr1471="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3772,
          "referenceAllele": "G",
          "start": 3771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004572.2:c.2034G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860061.1:p.Thr678="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4928,
          "referenceAllele": "G",
          "start": 4927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_024453024.1:c.4077G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308792.1:p.Thr1359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3604,
          "referenceAllele": "G",
          "start": 3603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_024453025.1:c.2349G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308793.1:p.Thr783="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4551,
          "referenceAllele": "G",
          "start": 4550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738864.2:n.4551G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4548,
          "referenceAllele": "G",
          "start": 4547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738865.2:n.4548G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4694,
          "referenceAllele": "G",
          "start": 4693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738866.2:n.4694G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4691,
          "referenceAllele": "G",
          "start": 4690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738867.2:n.4691G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3607,
          "referenceAllele": "G",
          "start": 3606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_002959320.1:n.3607G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605253"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829935921",
      "coordinates": [
        {
          "allele": "A",
          "end": 4533,
          "referenceAllele": "G",
          "start": 4532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_020919.4:c.4416G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065970.2:p.Thr1472="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264276.11:c.4416G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020919.4:c.4416G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264276.6:p.Thr1472="
          },
          "RefSeq": {
            "hgvs": "NP_065970.2:p.Thr1472="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}