{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA63975101",
  "communityStandardTitle": [
    "NM_020919.4(ALS2):c.*584G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=883321[alleleid]",
        "alleleId": 883321,
        "preferredName": "NM_020919.4(ALS2):c.*584G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/894945",
        "RCV": [
          "RCV001136750",
          "RCV001136751"
        ],
        "variationId": 894945
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.202565990C>T?assembly=hg19",
        "id": "chr2:g.202565990C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.201701267C>T?assembly=hg38",
        "id": "chr2:g.201701267C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/577282089",
        "rs": 577282089
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-202565990-C-T?dataset=gnomad_r2_1",
        "id": "2-202565990-C-T",
        "variant": "2:202565990 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-201701267-C-T?dataset=gnomad_r3",
        "id": "2-201701267-C-T",
        "variant": "2:201701267 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-201701267-C-T?dataset=gnomad_r4",
        "id": "2-201701267-C-T",
        "variant": "2:201701267 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 201701267,
          "referenceAllele": "C",
          "start": 201701266
        }
      ],
      "hgvs": [
        "NC_000002.12:g.201701267C>T",
        "CM000664.2:g.201701267C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 202565990,
          "referenceAllele": "C",
          "start": 202565989
        }
      ],
      "hgvs": [
        "NC_000002.11:g.202565990C>T",
        "CM000664.1:g.202565990C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 202274235,
          "referenceAllele": "C",
          "start": 202274234
        }
      ],
      "hgvs": [
        "NC_000002.10:g.202274235C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 84906,
          "referenceAllele": "G",
          "start": 84905
        }
      ],
      "hgvs": [
        "NG_008775.1:g.84906G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001208"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2428,
          "referenceAllele": "G",
          "start": 2427
        }
      ],
      "hgvs": [
        "NG_012654.1:g.2428G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002508"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5675,
          "referenceAllele": "G",
          "start": 5674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000264276.11:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264276.6:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742652",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264276.11:c.*584G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020919.4:c.*584G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264276.6:n.*584G>A"
          },
          "RefSeq": {
            "hgvs": "NP_065970.2:n.*584G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3799,
          "referenceAllele": "G",
          "start": 3798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000439495.6:c.*1738G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403832.2:n.*1738G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755751"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6409,
          "referenceAllele": "G",
          "start": 6408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679409.1:c.*4495G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506531.1:n.*4495G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779040"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7062,
          "referenceAllele": "G",
          "start": 7061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679416.1:n.7062G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5461,
          "referenceAllele": "G",
          "start": 5460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679427.1:n.5461G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5625,
          "endIntronDirection": "-",
          "endIntronOffset": 128,
          "referenceAllele": "G",
          "start": 5625,
          "startIntronDirection": "-",
          "startIntronOffset": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679435.1:c.*310-129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505218.1:n.*310-129G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779066"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5816,
          "referenceAllele": "G",
          "start": 5815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679516.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505187.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5904,
          "referenceAllele": "G",
          "start": 5903
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679618.1:c.*2646G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506274.1:n.*2646G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779246"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7407,
          "referenceAllele": "G",
          "start": 7406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679630.1:n.7407G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779258"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3820,
          "referenceAllele": "G",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679635.1:n.3820G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5672,
          "referenceAllele": "G",
          "start": 5671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679686.1:n.5672G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779313"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8550,
          "referenceAllele": "G",
          "start": 8549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679701.1:n.8550G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779328"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6043,
          "referenceAllele": "G",
          "start": 6042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000679916.1:c.*1906G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506172.1:n.*1906G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779538"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5835,
          "referenceAllele": "G",
          "start": 5834
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680135.1:c.*3519G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506211.1:n.*3519G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5877,
          "referenceAllele": "G",
          "start": 5876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680149.1:c.*840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506497.1:n.*840G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779769"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5942,
          "referenceAllele": "G",
          "start": 5941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680163.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505092.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779783"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6249,
          "referenceAllele": "G",
          "start": 6248
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680174.1:n.6249G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS779794"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5829,
          "referenceAllele": "G",
          "start": 5828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680236.1:c.*2619G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506212.1:n.*2619G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS779856"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3305,
          "referenceAllele": "G",
          "start": 3304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680404.1:n.3305G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4116,
          "referenceAllele": "G",
          "start": 4115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680441.1:n.4116G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5918,
          "referenceAllele": "G",
          "start": 5917
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680497.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505954.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5919,
          "referenceAllele": "G",
          "start": 5918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680508.1:c.*714G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505749.1:n.*714G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6222,
          "referenceAllele": "G",
          "start": 6221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680569.1:c.*3501G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505522.1:n.*3501G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780184"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2066,
          "referenceAllele": "G",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680634.1:n.2066G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780249"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3358,
          "referenceAllele": "G",
          "start": 3357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680722.1:n.3358G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780337"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5880,
          "referenceAllele": "G",
          "start": 5879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680726.1:c.*840G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505505.1:n.*840G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780341"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5732,
          "referenceAllele": "G",
          "start": 5731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680759.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505848.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780374"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5180,
          "endIntronDirection": "-",
          "endIntronOffset": 128,
          "referenceAllele": "G",
          "start": 5180,
          "startIntronDirection": "-",
          "startIntronOffset": 129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680814.1:c.4839-129G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505710.1:n.4839-129G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5841,
          "referenceAllele": "G",
          "start": 5840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680828.1:c.*3252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505249.1:n.*3252G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780443"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6049,
          "referenceAllele": "G",
          "start": 6048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680861.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505043.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6022,
          "referenceAllele": "G",
          "start": 6021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000680927.1:c.*1738G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505473.1:n.*1738G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780541"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4123,
          "referenceAllele": "G",
          "start": 4122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681250.1:c.*2275G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505684.1:n.*2275G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780861"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5970,
          "referenceAllele": "G",
          "start": 5969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681256.1:c.*3573G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505446.1:n.*3573G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS780867"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6424,
          "referenceAllele": "G",
          "start": 6423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681279.1:n.6424G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6671,
          "referenceAllele": "G",
          "start": 6670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681307.1:n.6671G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS780918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6326,
          "referenceAllele": "G",
          "start": 6325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681461.1:n.6326G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3536,
          "referenceAllele": "G",
          "start": 3535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681495.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506085.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3677,
          "referenceAllele": "G",
          "start": 3676
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681558.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505568.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781164"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5897,
          "referenceAllele": "G",
          "start": 5896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681619.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505071.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781225"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2464,
          "referenceAllele": "G",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681663.1:n.2464G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3518,
          "referenceAllele": "G",
          "start": 3517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681692.1:n.3518G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS781296"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6133,
          "referenceAllele": "G",
          "start": 6132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681716.1:c.*3412G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505078.1:n.*3412G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6003,
          "referenceAllele": "G",
          "start": 6002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681768.1:c.*3222G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506311.1:n.*3222G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5723,
          "referenceAllele": "G",
          "start": 5722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000681808.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505219.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5931,
          "referenceAllele": "G",
          "start": 5930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "ENST00000264276.10:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264276.6:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5914,
          "referenceAllele": "G",
          "start": 5913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_020919.3:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065970.2:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036690"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5690,
          "referenceAllele": "G",
          "start": 5689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_005246709.2:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246766.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5723,
          "referenceAllele": "G",
          "start": 5722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712654.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712717.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069756"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3649,
          "referenceAllele": "G",
          "start": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712655.2:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712718.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069757"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5637,
          "referenceAllele": "G",
          "start": 5636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_011511530.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509832.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078791"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5836,
          "referenceAllele": "G",
          "start": 5835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_922974.1:n.5836G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6518,
          "referenceAllele": "G",
          "start": 6517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712654.3:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712717.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4128,
          "referenceAllele": "G",
          "start": 4127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_006712655.3:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712718.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5690,
          "referenceAllele": "G",
          "start": 5689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004569.2:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860058.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560036"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4914,
          "referenceAllele": "G",
          "start": 4913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_017004572.2:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860061.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6070,
          "referenceAllele": "G",
          "start": 6069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_024453024.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308792.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586411"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4746,
          "referenceAllele": "G",
          "start": 4745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XM_024453025.1:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308793.1:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586412"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5673,
          "referenceAllele": "G",
          "start": 5672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738864.2:n.5673G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5670,
          "referenceAllele": "G",
          "start": 5669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738865.2:n.5670G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5836,
          "referenceAllele": "G",
          "start": 5835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738866.2:n.5836G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589306"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5833,
          "referenceAllele": "G",
          "start": 5832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_001738867.2:n.5833G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4729,
          "referenceAllele": "G",
          "start": 4728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "XR_002959320.1:n.4729G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5675,
          "referenceAllele": "G",
          "start": 5674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000443",
      "geneNCBI_id": 57679,
      "geneSymbol": "ALS2",
      "hgvs": [
        "NM_020919.4:c.*584G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_065970.2:n.*584G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670148",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264276.11:c.*584G>A"
          },
          "RefSeq": {
            "hgvs": "NM_020919.4:c.*584G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264276.6:n.*584G>A"
          },
          "RefSeq": {
            "hgvs": "NP_065970.2:n.*584G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}