{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340011033",
  "communityStandardTitle": [
    "NM_001365999.1(SZT2):c.2092C>G (p.Gln698Glu)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43888824C>G?assembly=hg19",
        "id": "chr1:g.43888824C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.43423153C>G?assembly=hg38",
        "id": "chr1:g.43423153C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/397515490",
        "rs": 397515490
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-43423153-C-G?dataset=gnomad_r4",
        "id": "1-43423153-C-G",
        "variant": "1:43423153 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43423153,
          "referenceAllele": "C",
          "start": 43423152
        }
      ],
      "hgvs": [
        "NC_000001.11:g.43423153C>G",
        "CM000663.2:g.43423153C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43888824,
          "referenceAllele": "C",
          "start": 43888823
        }
      ],
      "hgvs": [
        "NC_000001.10:g.43888824C>G",
        "CM000663.1:g.43888824C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 43661411,
          "referenceAllele": "C",
          "start": 43661410
        }
      ],
      "hgvs": [
        "NC_000001.9:g.43661411C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 38269,
          "referenceAllele": "C",
          "start": 38268
        }
      ],
      "hgvs": [
        "NG_029091.1:g.38269C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004247"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2165,
          "referenceAllele": "C",
          "start": 2164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000562955.2:c.2092C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457168.1:p.Gln698Glu",
        "hgvsWellDefined": "ENSP00000457168.1:p.Gln698Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760379"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2162,
          "referenceAllele": "C",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000634258.3:c.2092C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489255.1:p.Gln698Glu",
        "hgvsWellDefined": "ENSP00000489255.1:p.Gln698Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762553",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000634258.3:c.2092C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001365999.1:c.2092C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000489255.1:p.Gln698Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001352928.1:p.Gln698Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 823,
          "referenceAllele": "C",
          "start": 822
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000470139.1:n.823C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000562955.1:c.2092C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457168.1:p.Gln698Glu",
        "hgvsWellDefined": "ENSP00000457168.1:p.Gln698Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377117"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "ENST00000634258.1:c.2092C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489255.1:p.Gln698Glu",
        "hgvsWellDefined": "ENSP00000489255.1:p.Gln698Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407755"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064134958",
      "coordinates": [
        {
          "allele": "G",
          "end": 2176,
          "referenceAllele": "C",
          "start": 2175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "NM_015284.3:c.2092C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056099.3:p.Gln698Glu",
        "hgvsWellDefined": "NP_056099.3:p.Gln698Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033895"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_005270686.2:c.2155C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270743.1:p.Gln719Glu",
        "hgvsWellDefined": "XP_005270743.1:p.Gln719Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_006710501.2:c.2092C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710564.1:p.Gln698Glu",
        "hgvsWellDefined": "XP_006710564.1:p.Gln698Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2218,
          "referenceAllele": "C",
          "start": 2217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541103.1:c.2209C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539405.1:p.Gln737Glu",
        "hgvsWellDefined": "XP_011539405.1:p.Gln737Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2269,
          "referenceAllele": "C",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541104.1:c.2038C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539406.1:p.Gln680Glu",
        "hgvsWellDefined": "XP_011539406.1:p.Gln680Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2199,
          "referenceAllele": "C",
          "start": 2198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541105.1:c.2035C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539407.1:p.Gln679Glu",
        "hgvsWellDefined": "XP_011539407.1:p.Gln679Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2245,
          "referenceAllele": "C",
          "start": 2244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541106.1:c.2035C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539408.1:p.Gln679Glu",
        "hgvsWellDefined": "XP_011539408.1:p.Gln679Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541107.1:c.1636C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539409.1:p.Gln546Glu",
        "hgvsWellDefined": "XP_011539409.1:p.Gln546Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2162,
          "referenceAllele": "C",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "NM_001365999.1:c.2092C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001352928.1:p.Gln698Glu",
        "hgvsWellDefined": "NP_001352928.1:p.Gln698Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS524350",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000634258.3:c.2092C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001365999.1:c.2092C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000489255.1:p.Gln698Glu"
          },
          "RefSeq": {
            "hgvs": "NP_001352928.1:p.Gln698Glu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "C",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_005270686.3:c.2155C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270743.1:p.Gln719Glu",
        "hgvsWellDefined": "XP_005270743.1:p.Gln719Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536976"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2274,
          "referenceAllele": "C",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541106.3:c.2035C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539408.1:p.Gln679Glu",
        "hgvsWellDefined": "XP_011539408.1:p.Gln679Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554303"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_011541107.2:c.1636C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539409.1:p.Gln546Glu",
        "hgvsWellDefined": "XP_011539409.1:p.Gln546Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554304"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2237,
          "referenceAllele": "C",
          "start": 2236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_017000819.1:c.2155C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856308.1:p.Gln719Glu",
        "hgvsWellDefined": "XP_016856308.1:p.Gln719Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2066,
          "referenceAllele": "C",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_017000820.1:c.1984C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856309.1:p.Gln662Glu",
        "hgvsWellDefined": "XP_016856309.1:p.Gln662Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557103"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1758,
          "referenceAllele": "C",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XM_017000821.1:c.784C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856310.1:p.Gln262Glu",
        "hgvsWellDefined": "XP_016856310.1:p.Gln262Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557104"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2238,
          "referenceAllele": "C",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XR_001737075.1:n.2238C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587896"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2240,
          "referenceAllele": "C",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XR_001737076.1:n.2240C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587897"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2240,
          "referenceAllele": "C",
          "start": 2239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XR_001737077.1:n.2240C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587898"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2238,
          "referenceAllele": "C",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "XR_002956151.1:n.2238C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064134958",
      "coordinates": [
        {
          "allele": "G",
          "end": 2162,
          "referenceAllele": "C",
          "start": 2161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029040",
      "geneNCBI_id": 23334,
      "geneSymbol": "SZT2",
      "hgvs": [
        "NM_015284.4:c.2092C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_056099.3:p.Gln698Glu",
        "hgvsWellDefined": "NP_056099.3:p.Gln698Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697498"
    }
  ],
  "type": "nucleotide"
}