{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA671511",
  "communityStandardTitle": [
    "NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3689364",
        "active": true,
        "id": "COSM3689364"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=269082[alleleid]",
        "alleleId": 269082,
        "preferredName": "NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/284845",
        "RCV": [
          "RCV000259556",
          "RCV000354393",
          "RCV000387513",
          "RCV004535334",
          "RCV002518950"
        ],
        "variationId": 284845
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22179462-C-T",
        "id": "1-22179462-C-T",
        "variant": "1:22179462 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22179462C>T?assembly=hg19",
        "id": "chr1:g.22179462C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21852969C>T?assembly=hg38",
        "id": "chr1:g.21852969C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/143109401",
        "rs": 143109401
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22179462-C-T?dataset=gnomad_r2_1",
        "id": "1-22179462-C-T",
        "variant": "1:22179462 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21852969-C-T?dataset=gnomad_r3",
        "id": "1-21852969-C-T",
        "variant": "1:21852969 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21852969-C-T?dataset=gnomad_r4",
        "id": "1-21852969-C-T",
        "variant": "1:21852969 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 21852969,
          "referenceAllele": "C",
          "start": 21852968
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21852969C>T",
        "CM000663.2:g.21852969C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22179462,
          "referenceAllele": "C",
          "start": 22179461
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22179462C>T",
        "CM000663.1:g.22179462C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 22052049,
          "referenceAllele": "C",
          "start": 22052048
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22052049C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 89289,
          "referenceAllele": "G",
          "start": 89288
        }
      ],
      "hgvs": [
        "NG_016740.1:g.89289G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6634,
          "referenceAllele": "G",
          "start": 6633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.6541G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala2181Thr",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala2181Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.6541G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.6541G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala2181Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala2181Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6621,
          "referenceAllele": "G",
          "start": 6620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.6541G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Ala2181Thr",
        "hgvsWellDefined": "ENSP00000363827.3:p.Ala2181Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "referenceAllele": "G",
          "start": 298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000493940.2:n.299G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS330984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018022",
      "coordinates": [
        {
          "allele": "A",
          "end": 6624,
          "referenceAllele": "G",
          "start": 6623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.6544G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala2182Thr",
        "hgvsWellDefined": "NP_001278789.1:p.Ala2182Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396238",
      "coordinates": [
        {
          "allele": "A",
          "end": 6621,
          "referenceAllele": "G",
          "start": 6620
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.6541G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala2181Thr",
        "hgvsWellDefined": "NP_005520.4:p.Ala2181Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7102,
          "referenceAllele": "G",
          "start": 7101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.7087G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Ala2363Thr",
        "hgvsWellDefined": "XP_006710657.1:p.Ala2363Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7054,
          "referenceAllele": "G",
          "start": 7053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.7039G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Ala2347Thr",
        "hgvsWellDefined": "XP_006710658.1:p.Ala2347Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7033,
          "referenceAllele": "G",
          "start": 7032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.7018G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Ala2340Thr",
        "hgvsWellDefined": "XP_006710659.1:p.Ala2340Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6556,
          "referenceAllele": "G",
          "start": 6555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.6541G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Ala2181Thr",
        "hgvsWellDefined": "XP_006710660.1:p.Ala2181Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7105,
          "referenceAllele": "G",
          "start": 7104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.7090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Ala2364Thr",
        "hgvsWellDefined": "XP_011539619.1:p.Ala2364Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7105,
          "referenceAllele": "G",
          "start": 7104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.7090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala2364Thr",
        "hgvsWellDefined": "XP_011539620.1:p.Ala2364Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7105,
          "referenceAllele": "G",
          "start": 7104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.7090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Ala2364Thr",
        "hgvsWellDefined": "XP_011539621.1:p.Ala2364Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7105,
          "referenceAllele": "G",
          "start": 7104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.7090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Ala2364Thr",
        "hgvsWellDefined": "XP_011539622.1:p.Ala2364Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6610,
          "referenceAllele": "G",
          "start": 6609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.6595G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Ala2199Thr",
        "hgvsWellDefined": "XP_011539623.1:p.Ala2199Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7113,
          "referenceAllele": "G",
          "start": 7112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541322.1:c.7090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539624.1:p.Ala2364Thr",
        "hgvsWellDefined": "XP_011539624.1:p.Ala2364Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108264"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7105,
          "referenceAllele": "G",
          "start": 7104
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.7090G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Ala2364Thr",
        "hgvsWellDefined": "XP_011539620.1:p.Ala2364Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6751,
          "referenceAllele": "G",
          "start": 6750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.6736G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Ala2246Thr",
        "hgvsWellDefined": "XP_016856609.1:p.Ala2246Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6700,
          "referenceAllele": "G",
          "start": 6699
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.6685G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Ala2229Thr",
        "hgvsWellDefined": "XP_016856610.1:p.Ala2229Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6697,
          "referenceAllele": "G",
          "start": 6696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.6682G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Ala2228Thr",
        "hgvsWellDefined": "XP_016856611.1:p.Ala2228Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645396238",
      "coordinates": [
        {
          "allele": "A",
          "end": 6634,
          "referenceAllele": "G",
          "start": 6633
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.6541G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Ala2181Thr",
        "hgvsWellDefined": "NP_005520.4:p.Ala2181Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.6541G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.6541G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Ala2181Thr"
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Ala2181Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916018022",
      "coordinates": [
        {
          "allele": "A",
          "end": 6637,
          "referenceAllele": "G",
          "start": 6636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.6544G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Ala2182Thr",
        "hgvsWellDefined": "NP_001278789.1:p.Ala2182Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}