{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA671364",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=279155[alleleid]",
        "alleleId": 279155,
        "preferredName": "NM_005529.7(HSPG2):c.6966G>T (p.Thr2322=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/295802",
        "RCV": [
          "RCV000319693",
          "RCV000374302"
        ],
        "variationId": 295802
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22178324-C-A",
        "id": "1-22178324-C-A",
        "variant": "1:22178324 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22178324C>A?assembly=hg19",
        "id": "chr1:g.22178324C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21851831C>A?assembly=hg38",
        "id": "chr1:g.21851831C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/565594406",
        "rs": 565594406
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22178324-C-A?dataset=gnomad_r2_1",
        "id": "1-22178324-C-A",
        "variant": "1:22178324 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21851831-C-A?dataset=gnomad_r3",
        "id": "1-21851831-C-A",
        "variant": "1:21851831 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21851831-C-A?dataset=gnomad_r4",
        "id": "1-21851831-C-A",
        "variant": "1:21851831 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21851831,
          "referenceAllele": "C",
          "start": 21851830
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21851831C>A",
        "CM000663.2:g.21851831C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22178324,
          "referenceAllele": "C",
          "start": 22178323
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22178324C>A",
        "CM000663.1:g.22178324C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22050911,
          "referenceAllele": "C",
          "start": 22050910
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22050911C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 90427,
          "referenceAllele": "G",
          "start": 90426
        }
      ],
      "hgvs": [
        "NG_016740.1:g.90427G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7059,
          "referenceAllele": "G",
          "start": 7058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.6966G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Thr2322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.6966G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.6966G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Thr2322="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Thr2322="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7046,
          "referenceAllele": "G",
          "start": 7045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.6966G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Thr2322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 240,
          "referenceAllele": "G",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000493940.2:n.305-241G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811097",
      "coordinates": [
        {
          "allele": "T",
          "end": 7049,
          "referenceAllele": "G",
          "start": 7048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.6969G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Thr2323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829595268",
      "coordinates": [
        {
          "allele": "T",
          "end": 7046,
          "referenceAllele": "G",
          "start": 7045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.6966G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Thr2322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7527,
          "referenceAllele": "G",
          "start": 7526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.7512G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Thr2504="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7479,
          "referenceAllele": "G",
          "start": 7478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.7464G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Thr2488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7458,
          "referenceAllele": "G",
          "start": 7457
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.7443G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Thr2481="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6981,
          "referenceAllele": "G",
          "start": 6980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.6966G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Thr2322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7530,
          "referenceAllele": "G",
          "start": 7529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.7515G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Thr2505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7530,
          "referenceAllele": "G",
          "start": 7529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.7515G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Thr2505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7530,
          "referenceAllele": "G",
          "start": 7529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.7515G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Thr2505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7251,
          "referenceAllele": "G",
          "start": 7250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.7236G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Thr2412="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7035,
          "referenceAllele": "G",
          "start": 7034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.7020G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Thr2340="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7538,
          "referenceAllele": "G",
          "start": 7537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.7515G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.Thr2505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7530,
          "referenceAllele": "G",
          "start": 7529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.7515G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Thr2505="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7176,
          "referenceAllele": "G",
          "start": 7175
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.7161G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Thr2387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7125,
          "referenceAllele": "G",
          "start": 7124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.7110G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Thr2370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7122,
          "referenceAllele": "G",
          "start": 7121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.7107G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Thr2369="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829595268",
      "coordinates": [
        {
          "allele": "T",
          "end": 7059,
          "referenceAllele": "G",
          "start": 7058
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.6966G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Thr2322="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.6966G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.6966G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Thr2322="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Thr2322="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811097",
      "coordinates": [
        {
          "allele": "T",
          "end": 7062,
          "referenceAllele": "G",
          "start": 7061
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.6969G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Thr2323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}