{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA671524",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=904227",
        "active": true,
        "id": "COSM904227"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=863655[alleleid]",
        "alleleId": 863655,
        "preferredName": "NM_005529.7(HSPG2):c.6492G>A (p.Ala2164=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/876347",
        "RCV": [
          "RCV001101017",
          "RCV001101018",
          "RCV002554971",
          "RCV004536152"
        ],
        "variationId": 876347
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22179511-C-T",
        "id": "1-22179511-C-T",
        "variant": "1:22179511 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22179511C>T?assembly=hg19",
        "id": "chr1:g.22179511C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21853018C>T?assembly=hg38",
        "id": "chr1:g.21853018C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/752099132",
        "rs": 752099132
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22179511-C-T?dataset=gnomad_r2_1",
        "id": "1-22179511-C-T",
        "variant": "1:22179511 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21853018-C-T?dataset=gnomad_r3",
        "id": "1-21853018-C-T",
        "variant": "1:21853018 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21853018-C-T?dataset=gnomad_r4",
        "id": "1-21853018-C-T",
        "variant": "1:21853018 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21853018,
          "referenceAllele": "C",
          "start": 21853017
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21853018C>T",
        "CM000663.2:g.21853018C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22179511,
          "referenceAllele": "C",
          "start": 22179510
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22179511C>T",
        "CM000663.1:g.22179511C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22052098,
          "referenceAllele": "C",
          "start": 22052097
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22052098C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89240,
          "referenceAllele": "G",
          "start": 89239
        }
      ],
      "hgvs": [
        "NG_016740.1:g.89240G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6585,
          "referenceAllele": "G",
          "start": 6584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.6492G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala2164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.6492G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.6492G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala2164="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala2164="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6572,
          "referenceAllele": "G",
          "start": 6571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.6492G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala2164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000493940.2:n.250G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811071",
      "coordinates": [
        {
          "allele": "A",
          "end": 6575,
          "referenceAllele": "G",
          "start": 6574
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.6495G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala2165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829595193",
      "coordinates": [
        {
          "allele": "A",
          "end": 6572,
          "referenceAllele": "G",
          "start": 6571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.6492G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala2164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7053,
          "referenceAllele": "G",
          "start": 7052
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.7038G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Ala2346="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7005,
          "referenceAllele": "G",
          "start": 7004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.6990G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Ala2330="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6984,
          "referenceAllele": "G",
          "start": 6983
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.6969G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Ala2323="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6507,
          "referenceAllele": "G",
          "start": 6506
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.6492G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Ala2164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7056,
          "referenceAllele": "G",
          "start": 7055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.7041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Ala2347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7056,
          "referenceAllele": "G",
          "start": 7055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.7041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala2347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7056,
          "referenceAllele": "G",
          "start": 7055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.7041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Ala2347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7056,
          "referenceAllele": "G",
          "start": 7055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.7041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Ala2347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6561,
          "referenceAllele": "G",
          "start": 6560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.6546G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Ala2182="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7064,
          "referenceAllele": "G",
          "start": 7063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.7041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.Ala2347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7056,
          "referenceAllele": "G",
          "start": 7055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.7041G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala2347="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6702,
          "referenceAllele": "G",
          "start": 6701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.6687G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Ala2229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6651,
          "referenceAllele": "G",
          "start": 6650
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.6636G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Ala2212="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6648,
          "referenceAllele": "G",
          "start": 6647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.6633G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Ala2211="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829595193",
      "coordinates": [
        {
          "allele": "A",
          "end": 6585,
          "referenceAllele": "G",
          "start": 6584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.6492G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala2164="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.6492G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.6492G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala2164="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala2164="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811071",
      "coordinates": [
        {
          "allele": "A",
          "end": 6588,
          "referenceAllele": "G",
          "start": 6587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.6495G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala2165="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}