{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1165617201",
  "communityStandardTitle": [
    "NM_001365999.1(SZT2):c.6724C= (p.Arg2242=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/765848129",
        "rs": 765848129
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43439025,
          "referenceAllele": "C",
          "start": 43439024
        }
      ],
      "hgvs": [
        "NC_000001.11:g.43439025C=",
        "CM000663.2:g.43439025C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43904696,
          "referenceAllele": "C",
          "start": 43904695
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43904696C=",
        "CM000663.1:g.43904696C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 43677283,
          "referenceAllele": "C",
          "start": 43677282
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43677283C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 54141,
          "referenceAllele": "C",
          "start": 54140
        }
      ],
      "hgvs": [
        "NG_029091.1:g.54141C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004247"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6626,
          "referenceAllele": "C",
          "start": 6625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000562955.2:c.6553C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457168.1:p.Arg2185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760379"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6794,
          "referenceAllele": "C",
          "start": 6793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000634258.3:c.6724C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489255.1:p.Arg2242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762553",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000634258.3:c.6724C="
          },
          "RefSeq": {
            "hgvs": "NM_001365999.1:c.6724C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000489255.1:p.Arg2242="
          },
          "RefSeq": {
            "hgvs": "NP_001352928.1:p.Arg2242="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3178,
          "referenceAllele": "C",
          "start": 3177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000648058.1:n.3178C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769766"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1474,
          "referenceAllele": "C",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000649403.1:n.1474C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS770518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000471177.1:n.387C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313434"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6553,
          "referenceAllele": "C",
          "start": 6552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000562955.1:c.6553C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457168.1:p.Arg2185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6724,
          "referenceAllele": "C",
          "start": 6723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000634258.1:c.6724C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489255.1:p.Arg2242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064300349",
      "coordinates": [
        {
          "allele": "C",
          "end": 6637,
          "referenceAllele": "C",
          "start": 6636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "NM_015284.3:c.6553C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056099.3:p.Arg2185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6886,
          "referenceAllele": "C",
          "start": 6885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_005270686.2:c.6787C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005270743.1:p.Arg2263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066618"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6756,
          "referenceAllele": "C",
          "start": 6755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_006710501.2:c.6724C="
      ],
      "proteinEffect": {
        "hgvs": "XP_006710564.1:p.Arg2242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068648"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6850,
          "referenceAllele": "C",
          "start": 6849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541103.1:c.6841C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539405.1:p.Arg2281="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108046"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6901,
          "referenceAllele": "C",
          "start": 6900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541104.1:c.6670C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539406.1:p.Arg2224="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6831,
          "referenceAllele": "C",
          "start": 6830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541105.1:c.6667C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539407.1:p.Arg2223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6877,
          "referenceAllele": "C",
          "start": 6876
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541106.1:c.6667C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539408.1:p.Arg2223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6389,
          "referenceAllele": "C",
          "start": 6388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541107.1:c.6268C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539409.1:p.Arg2090="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6794,
          "referenceAllele": "C",
          "start": 6793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "NM_001365999.1:c.6724C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001352928.1:p.Arg2242="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000634258.3:c.6724C="
          },
          "RefSeq": {
            "hgvs": "NM_001365999.1:c.6724C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000489255.1:p.Arg2242="
          },
          "RefSeq": {
            "hgvs": "NP_001352928.1:p.Arg2242="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6869,
          "referenceAllele": "C",
          "start": 6868
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_005270686.3:c.6787C="
      ],
      "proteinEffect": {
        "hgvs": "XP_005270743.1:p.Arg2263="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536976"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6906,
          "referenceAllele": "C",
          "start": 6905
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541106.3:c.6667C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539408.1:p.Arg2223="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554303"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6404,
          "referenceAllele": "C",
          "start": 6403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541107.2:c.6268C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011539409.1:p.Arg2090="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554304"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6716,
          "referenceAllele": "C",
          "start": 6715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_017000819.1:c.6634C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856308.1:p.Arg2212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557102"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6698,
          "referenceAllele": "C",
          "start": 6697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_017000820.1:c.6616C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856309.1:p.Arg2206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557103"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6390,
          "referenceAllele": "C",
          "start": 6389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_017000821.1:c.5416C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016856310.1:p.Arg1806="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557104"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6870,
          "referenceAllele": "C",
          "start": 6869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XR_001737075.1:n.6870C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587896"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 6870,
          "referenceAllele": "C",
          "start": 6869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XR_002956151.1:n.6870C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064300349",
      "coordinates": [
        {
          "allele": "C",
          "end": 6623,
          "referenceAllele": "C",
          "start": 6622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "NM_015284.4:c.6553C="
      ],
      "proteinEffect": {
        "hgvs": "NP_056099.3:p.Arg2185="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697498"
    }
  ],
  "type": "nucleotide"
}