{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA338912092",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=970196[alleleid]",
        "alleleId": 970196,
        "preferredName": "NM_005529.7(HSPG2):c.9970G>A (p.Gly3324Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/982057",
        "RCV": [
          "RCV001261556",
          "RCV001597262",
          "RCV001824170",
          "RCV003989665"
        ],
        "variationId": 982057
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22165498C>T?assembly=hg19",
        "id": "chr1:g.22165498C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21839005C>T?assembly=hg38",
        "id": "chr1:g.21839005C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1294413650",
        "rs": 1294413650
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22165498-C-T?dataset=gnomad_r2_1",
        "id": "1-22165498-C-T",
        "variant": "1:22165498 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21839005-C-T?dataset=gnomad_r4",
        "id": "1-21839005-C-T",
        "variant": "1:21839005 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21839005,
          "referenceAllele": "C",
          "start": 21839004
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21839005C>T",
        "CM000663.2:g.21839005C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22165498,
          "referenceAllele": "C",
          "start": 22165497
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22165498C>T",
        "CM000663.1:g.22165498C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22038085,
          "referenceAllele": "C",
          "start": 22038084
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22038085C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 103253,
          "referenceAllele": "G",
          "start": 103252
        }
      ],
      "hgvs": [
        "NG_016740.1:g.103253G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10063,
          "referenceAllele": "G",
          "start": 10062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.9970G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Gly3324Arg",
        "hgvsWellDefined": "ENSP00000363827.3:p.Gly3324Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.9970G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.9970G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Gly3324Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Gly3324Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2,
          "referenceAllele": "G",
          "start": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374676.4:c.2G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS270356"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10050,
          "referenceAllele": "G",
          "start": 10049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.9970G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Gly3324Arg",
        "hgvsWellDefined": "ENSP00000363827.3:p.Gly3324Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139697502",
      "coordinates": [
        {
          "allele": "A",
          "end": 10053,
          "referenceAllele": "G",
          "start": 10052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.9973G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Gly3325Arg",
        "hgvsWellDefined": "NP_001278789.1:p.Gly3325Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829595972",
      "coordinates": [
        {
          "allele": "A",
          "end": 10050,
          "referenceAllele": "G",
          "start": 10049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.9970G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Gly3324Arg",
        "hgvsWellDefined": "NP_005520.4:p.Gly3324Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10531,
          "referenceAllele": "G",
          "start": 10530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.10516G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Gly3506Arg",
        "hgvsWellDefined": "XP_006710657.1:p.Gly3506Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10483,
          "referenceAllele": "G",
          "start": 10482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.10468G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Gly3490Arg",
        "hgvsWellDefined": "XP_006710658.1:p.Gly3490Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10462,
          "referenceAllele": "G",
          "start": 10461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.10447G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Gly3483Arg",
        "hgvsWellDefined": "XP_006710659.1:p.Gly3483Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 9985,
          "referenceAllele": "G",
          "start": 9984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.9970G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Gly3324Arg",
        "hgvsWellDefined": "XP_006710660.1:p.Gly3324Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10534,
          "referenceAllele": "G",
          "start": 10533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.10519G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Gly3507Arg",
        "hgvsWellDefined": "XP_011539619.1:p.Gly3507Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10534,
          "referenceAllele": "G",
          "start": 10533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.10519G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Gly3507Arg",
        "hgvsWellDefined": "XP_011539620.1:p.Gly3507Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10534,
          "referenceAllele": "G",
          "start": 10533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.10519G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Gly3507Arg",
        "hgvsWellDefined": "XP_011539621.1:p.Gly3507Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10255,
          "referenceAllele": "G",
          "start": 10254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.10240G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Gly3414Arg",
        "hgvsWellDefined": "XP_011539622.1:p.Gly3414Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10039,
          "referenceAllele": "G",
          "start": 10038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.10024G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Gly3342Arg",
        "hgvsWellDefined": "XP_011539623.1:p.Gly3342Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10534,
          "referenceAllele": "G",
          "start": 10533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.10519G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Gly3507Arg",
        "hgvsWellDefined": "XP_011539620.1:p.Gly3507Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10180,
          "referenceAllele": "G",
          "start": 10179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.10165G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Gly3389Arg",
        "hgvsWellDefined": "XP_016856609.1:p.Gly3389Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10129,
          "referenceAllele": "G",
          "start": 10128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.10114G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Gly3372Arg",
        "hgvsWellDefined": "XP_016856610.1:p.Gly3372Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 10126,
          "referenceAllele": "G",
          "start": 10125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.10111G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Gly3371Arg",
        "hgvsWellDefined": "XP_016856611.1:p.Gly3371Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829595972",
      "coordinates": [
        {
          "allele": "A",
          "end": 10063,
          "referenceAllele": "G",
          "start": 10062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.9970G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Gly3324Arg",
        "hgvsWellDefined": "NP_005520.4:p.Gly3324Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.9970G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.9970G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Gly3324Arg"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Gly3324Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139697502",
      "coordinates": [
        {
          "allele": "A",
          "end": 10066,
          "referenceAllele": "G",
          "start": 10065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.9973G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Gly3325Arg",
        "hgvsWellDefined": "NP_001278789.1:p.Gly3325Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}