{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1676681333",
  "communityStandardTitle": [
    "NM_000636.4(SOD2):c.*3409T="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2842980",
        "rs": 2842980
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 159679084,
          "referenceAllele": "A",
          "start": 159679083
        }
      ],
      "hgvs": [
        "NC_000006.12:g.159679084A=",
        "CM000668.2:g.159679084A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000054"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 160100116,
          "referenceAllele": "A",
          "start": 160100115
        }
      ],
      "hgvs": [
        "NC_000006.11:g.160100116A=",
        "CM000668.1:g.160100116A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000030"
    },
    {
      "chromosome": "6",
      "coordinates": [
        {
          "allele": "A",
          "end": 160020106,
          "referenceAllele": "A",
          "start": 160020105
        }
      ],
      "hgvs": [
        "NC_000006.10:g.160020106A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000006"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 19238,
          "referenceAllele": "T",
          "start": 19237
        }
      ],
      "hgvs": [
        "NG_008729.1:g.19238T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 88446,
          "referenceAllele": "T",
          "start": 88445
        }
      ],
      "hgvs": [
        "NG_008729.3:g.88446T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616111"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4152,
          "referenceAllele": "T",
          "start": 4151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "ENST00000538183.7:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446252.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759551",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000538183.7:c.*3409T="
          },
          "RefSeq": {
            "hgvs": "NM_000636.4:c.*3409T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000446252.1:n.*3409T="
          },
          "RefSeq": {
            "hgvs": "NP_000627.2:n.*3409T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 970,
          "referenceAllele": "T",
          "start": 969
        }
      ],
      "hgvs": [
        "ENST00000367055.8:c.*234T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356022.4:n.*234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266174"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "T",
          "start": 4238
        }
      ],
      "hgvs": [
        "ENST00000538183.6:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446252.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361182"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4282,
          "referenceAllele": "T",
          "start": 4281
        }
      ],
      "hgvs": [
        "ENST00000546260.5:c.*3782T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440131.1:n.*3782T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS365528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4239,
          "referenceAllele": "T",
          "start": 4238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_000636.3:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000627.2:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510826"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "T",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001024465.2:c.*234T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019636.1:n.*234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "T",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001024466.2:c.*234T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019637.1:n.*234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4122,
          "referenceAllele": "T",
          "start": 4121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322814.1:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309743.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4059,
          "referenceAllele": "T",
          "start": 4058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322815.1:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309744.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2593,
          "referenceAllele": "T",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322817.1:c.*234T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309746.1:n.*234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4145,
          "referenceAllele": "T",
          "start": 4144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322819.1:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309748.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515088"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4148,
          "referenceAllele": "T",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322820.1:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309749.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4152,
          "referenceAllele": "T",
          "start": 4151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_000636.4:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_000627.2:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662514",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000538183.7:c.*3409T="
          },
          "RefSeq": {
            "hgvs": "NM_000636.4:c.*3409T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000446252.1:n.*3409T="
          },
          "RefSeq": {
            "hgvs": "NP_000627.2:n.*3409T="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "T",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001024465.3:c.*234T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019636.1:n.*234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 860,
          "referenceAllele": "T",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001024466.3:c.*234T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001019637.1:n.*234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675622"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4035,
          "referenceAllele": "T",
          "start": 4034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322814.2:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309743.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3972,
          "referenceAllele": "T",
          "start": 3971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322815.2:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309744.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2345,
          "referenceAllele": "T",
          "start": 2344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322817.2:c.*234T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309746.1:n.*234T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4174,
          "referenceAllele": "T",
          "start": 4173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322819.2:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309748.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4154,
          "referenceAllele": "T",
          "start": 4153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011180",
      "geneNCBI_id": 6648,
      "geneSymbol": "SOD2",
      "hgvs": [
        "NM_001322820.2:c.*3409T="
      ],
      "proteinEffect": {
        "hgvs": "NP_001309749.1:n.*3409T="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685807"
    }
  ],
  "type": "nucleotide"
}