{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA669154",
  "communityStandardTitle": [
    "NM_001013693.3(LDLRAD2):c.*1272G>A",
    "NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4691400",
        "active": true,
        "id": "COSM4691400"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=280438[alleleid]",
        "alleleId": 280438,
        "preferredName": "NM_005529.7(HSPG2):c.13005C>T (p.Gly4335=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/295696",
        "RCV": [
          "RCV000271724",
          "RCV000310401",
          "RCV002520421"
        ],
        "variationId": 295696
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-22149980-G-A",
        "id": "1-22149980-G-A",
        "variant": "1:22149980 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.22149980G>A?assembly=hg19",
        "id": "chr1:g.22149980G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.21823487G>A?assembly=hg38",
        "id": "chr1:g.21823487G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/568526447",
        "rs": 568526447
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-22149980-G-A?dataset=gnomad_r2_1",
        "id": "1-22149980-G-A",
        "variant": "1:22149980 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21823487-G-A?dataset=gnomad_r3",
        "id": "1-21823487-G-A",
        "variant": "1:21823487 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-21823487-G-A?dataset=gnomad_r4",
        "id": "1-21823487-G-A",
        "variant": "1:21823487 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 21823487,
          "referenceAllele": "G",
          "start": 21823486
        }
      ],
      "hgvs": [
        "NC_000001.11:g.21823487G>A",
        "CM000663.2:g.21823487G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22149980,
          "referenceAllele": "G",
          "start": 22149979
        }
      ],
      "hgvs": [
        "NC_000001.10:g.22149980G>A",
        "CM000663.1:g.22149980G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 22022567,
          "referenceAllele": "G",
          "start": 22022566
        }
      ],
      "hgvs": [
        "NC_000001.9:g.22022567G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 118771,
          "referenceAllele": "C",
          "start": 118770
        }
      ],
      "hgvs": [
        "NG_016740.1:g.118771C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003265"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032071",
      "geneNCBI_id": 401944,
      "geneSymbol": "LDLRAD2",
      "hgvs": [
        "ENST00000344642.7:c.*1272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340988.2:n.*1272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748236",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344642.7:c.*1272G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001013693.3:c.*1272G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340988.2:n.*1272G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001013715.2:n.*1272G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13098,
          "referenceAllele": "C",
          "start": 13097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.8:c.13005C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Gly4335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751480",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.13005C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.13005C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Gly4335="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Gly4335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032071",
      "geneNCBI_id": 401944,
      "geneSymbol": "LDLRAD2",
      "hgvs": [
        "ENST00000344642.6:c.*1272G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340988.2:n.*1272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13085,
          "referenceAllele": "C",
          "start": 13084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000374695.7:c.13005C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363827.3:p.Gly4335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270365"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 653,
          "referenceAllele": "C",
          "start": 652
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000481644.1:n.653C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321513"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2344,
          "referenceAllele": "C",
          "start": 2343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "ENST00000486901.1:n.2344C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325595"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1126,
          "endIntronDirection": "-",
          "endIntronOffset": 422,
          "referenceAllele": "G",
          "start": 1126,
          "startIntronDirection": "-",
          "startIntronOffset": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032071",
      "geneNCBI_id": 401944,
      "geneSymbol": "LDLRAD2",
      "hgvs": [
        "ENST00000543870.1:c.*219-423G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444097.1:n.*219-423G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364257"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032071",
      "geneNCBI_id": 401944,
      "geneSymbol": "LDLRAD2",
      "hgvs": [
        "NM_001013693.2:c.*1272G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013715.2:n.*1272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008442"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811428",
      "coordinates": [
        {
          "allele": "T",
          "end": 13088,
          "referenceAllele": "C",
          "start": 13087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.1:c.13008C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Gly4336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829596537",
      "coordinates": [
        {
          "allele": "T",
          "end": 13085,
          "referenceAllele": "C",
          "start": 13084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.6:c.13005C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Gly4335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030620"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13584,
          "referenceAllele": "C",
          "start": 13583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710594.2:c.13569C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710657.1:p.Gly4523="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13536,
          "referenceAllele": "C",
          "start": 13535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710595.2:c.13521C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710658.1:p.Gly4507="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13515,
          "referenceAllele": "C",
          "start": 13514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710596.2:c.13500C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710659.1:p.Gly4500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13038,
          "referenceAllele": "C",
          "start": 13037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_006710597.2:c.13023C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006710660.1:p.Gly4341="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13587,
          "referenceAllele": "C",
          "start": 13586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541317.1:c.13572C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539619.1:p.Gly4524="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13569,
          "referenceAllele": "C",
          "start": 13568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.1:c.13554C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Gly4518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13464,
          "referenceAllele": "C",
          "start": 13463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541319.1:c.13449C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539621.1:p.Gly4483="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13308,
          "referenceAllele": "C",
          "start": 13307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541320.1:c.13293C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539622.1:p.Gly4431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108262"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13092,
          "referenceAllele": "C",
          "start": 13091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541321.1:c.13077C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539623.1:p.Gly4359="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108263"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13569,
          "referenceAllele": "C",
          "start": 13568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_011541318.2:c.13554C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539620.1:p.Gly4518="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13215,
          "referenceAllele": "C",
          "start": 13214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001120.1:c.13200C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856609.1:p.Gly4400="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13164,
          "referenceAllele": "C",
          "start": 13163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001121.1:c.13149C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856610.1:p.Gly4383="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13161,
          "referenceAllele": "C",
          "start": 13160
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "XM_017001122.1:c.13146C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856611.1:p.Gly4382="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829596537",
      "coordinates": [
        {
          "allele": "T",
          "end": 13098,
          "referenceAllele": "C",
          "start": 13097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_005529.7:c.13005C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005520.4:p.Gly4335="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374695.8:c.13005C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005529.7:c.13005C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363827.3:p.Gly4335="
          },
          "RefSeq": {
            "hgvs": "NP_005520.4:p.Gly4335="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2278,
          "referenceAllele": "G",
          "start": 2277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN032071",
      "geneNCBI_id": 401944,
      "geneSymbol": "LDLRAD2",
      "hgvs": [
        "NM_001013693.3:c.*1272G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001013715.2:n.*1272G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675482",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344642.7:c.*1272G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001013693.3:c.*1272G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000340988.2:n.*1272G>A"
          },
          "RefSeq": {
            "hgvs": "NP_001013715.2:n.*1272G>A"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826811428",
      "coordinates": [
        {
          "allele": "T",
          "end": 13101,
          "referenceAllele": "C",
          "start": 13100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005273",
      "geneNCBI_id": 3339,
      "geneSymbol": "HSPG2",
      "hgvs": [
        "NM_001291860.2:c.13008C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001278789.1:p.Gly4336="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682883"
    }
  ],
  "type": "nucleotide"
}