{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10606093",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=272679[alleleid]",
        "alleleId": 272679,
        "preferredName": "NM_001130987.2(DYSF):c.2344G>T (p.Glu782Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288442",
        "RCV": [
          "RCV000592091"
        ],
        "variationId": 288442
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71789009G>T?assembly=hg19",
        "id": "chr2:g.71789009G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71561879G>T?assembly=hg38",
        "id": "chr2:g.71561879G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/886043901",
        "rs": 886043901
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71561879,
          "referenceAllele": "G",
          "start": 71561878
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71561879G>T",
        "CM000664.2:g.71561879G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71789009,
          "referenceAllele": "G",
          "start": 71789008
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71789009G>T",
        "CM000664.1:g.71789009G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 71642517,
          "referenceAllele": "G",
          "start": 71642516
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71642517G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 113257,
          "referenceAllele": "G",
          "start": 113256
        }
      ],
      "hgvs": [
        "NG_008694.1:g.113257G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2728,
          "referenceAllele": "G",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.2290G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Glu764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.2290G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.2290G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu764Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu764Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2488,
          "referenceAllele": "G",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.2344G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Glu782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.2344G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.2344G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Glu782Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Glu782Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2567,
          "referenceAllele": "G",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.2290G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:p.Glu764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.2293G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:p.Glu765Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.2293G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:p.Glu765Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.2341G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:p.Glu781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "referenceAllele": "G",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.2386G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:p.Glu796Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "G",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.2251G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:p.Glu751Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2618,
          "referenceAllele": "G",
          "start": 2617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.2341G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:p.Glu781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2485,
          "referenceAllele": "G",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.2344G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:p.Glu782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2485,
          "referenceAllele": "G",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.2344G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:p.Glu782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2660,
          "referenceAllele": "G",
          "start": 2659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.2383G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:p.Glu795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2567,
          "referenceAllele": "G",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.2290G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:p.Glu764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.2293G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Glu765Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2624,
          "referenceAllele": "G",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.2248G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Glu750Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2624,
          "referenceAllele": "G",
          "start": 2623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.2248G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Glu750Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.2290G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Glu764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2759,
          "referenceAllele": "G",
          "start": 2758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.2383G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Glu795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2717,
          "referenceAllele": "G",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.2341G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Glu781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2717,
          "referenceAllele": "G",
          "start": 2716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.2341G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Glu781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2527,
          "referenceAllele": "G",
          "start": 2526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.2386G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu796Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2434,
          "referenceAllele": "G",
          "start": 2433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.2293G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Glu765Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "G",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.2251G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu751Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2485,
          "referenceAllele": "G",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.2344G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2392,
          "referenceAllele": "G",
          "start": 2391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.2251G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu751Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2485,
          "referenceAllele": "G",
          "start": 2484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.2344G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Glu782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2666,
          "referenceAllele": "G",
          "start": 2665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.2290G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2526,
          "referenceAllele": "G",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.2386G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Glu796Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3263,
          "referenceAllele": "G",
          "start": 3262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.2383G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Glu795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2542,
          "referenceAllele": "G",
          "start": 2541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.2386G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:p.Glu796Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3228,
          "referenceAllele": "G",
          "start": 3227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.2383G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:p.Glu795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2544,
          "referenceAllele": "G",
          "start": 2543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.2544G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2488,
          "referenceAllele": "G",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.2344G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:p.Glu782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.2344G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.2344G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:p.Glu782Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:p.Glu782Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "referenceAllele": "G",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.2293G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:p.Glu765Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.2248G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:p.Glu750Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2686,
          "referenceAllele": "G",
          "start": 2685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.2248G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:p.Glu750Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2728,
          "referenceAllele": "G",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.2290G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:p.Glu764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2821,
          "referenceAllele": "G",
          "start": 2820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.2383G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:p.Glu795Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2779,
          "referenceAllele": "G",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.2341G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:p.Glu781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2779,
          "referenceAllele": "G",
          "start": 2778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.2341G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:p.Glu781Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2530,
          "referenceAllele": "G",
          "start": 2529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.2386G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:p.Glu796Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "referenceAllele": "G",
          "start": 2436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.2293G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:p.Glu765Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2395,
          "referenceAllele": "G",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.2251G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:p.Glu751Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2488,
          "referenceAllele": "G",
          "start": 2487
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.2344G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:p.Glu782Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2395,
          "referenceAllele": "G",
          "start": 2394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.2251G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:p.Glu751Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2728,
          "referenceAllele": "G",
          "start": 2727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.2290G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:p.Glu764Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.2290G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.2290G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:p.Glu764Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:p.Glu764Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}