{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1306333425",
  "communityStandardTitle": [
    "NM_004525.3(LRP2):c.7564T= (p.Tyr2522=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338747",
        "rs": 80338747
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169205630,
          "referenceAllele": "A",
          "start": 169205629
        }
      ],
      "hgvs": [
        "NC_000002.12:g.169205630A=",
        "CM000664.2:g.169205630A="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 170062140,
          "referenceAllele": "A",
          "start": 170062139
        }
      ],
      "hgvs": [
        "NC_000002.11:g.170062140A=",
        "CM000664.1:g.170062140A="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169770386,
          "referenceAllele": "A",
          "start": 169770385
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169770386A="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 161983,
          "referenceAllele": "T",
          "start": 161982
        }
      ],
      "hgvs": [
        "NG_012634.1:g.161983T="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7699,
          "referenceAllele": "T",
          "start": 7698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000649046.1:c.7564T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496870.1:p.Tyr2522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649046.1:c.7564T="
          },
          "RefSeq": {
            "hgvs": "NM_004525.3:c.7564T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496870.1:p.Tyr2522="
          },
          "RefSeq": {
            "hgvs": "NP_004516.2:p.Tyr2522="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7850,
          "referenceAllele": "T",
          "start": 7849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000263816.7:c.7564T="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263816.3:p.Tyr2522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066520257",
      "coordinates": [
        {
          "allele": "T",
          "end": 7777,
          "referenceAllele": "T",
          "start": 7776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "NM_004525.2:c.7564T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004516.2:p.Tyr2522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7778,
          "referenceAllele": "T",
          "start": 7777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511183.1:c.7564T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509485.1:p.Tyr2522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5290,
          "referenceAllele": "T",
          "start": 5289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511184.1:c.5275T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509486.1:p.Tyr1759="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7778,
          "referenceAllele": "T",
          "start": 7777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511185.1:c.7564T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509487.1:p.Tyr2522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078446"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3066520257",
      "coordinates": [
        {
          "allele": "T",
          "end": 7699,
          "referenceAllele": "T",
          "start": 7698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "NM_004525.3:c.7564T="
      ],
      "proteinEffect": {
        "hgvs": "NP_004516.2:p.Tyr2522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649046.1:c.7564T="
          },
          "RefSeq": {
            "hgvs": "NM_004525.3:c.7564T="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496870.1:p.Tyr2522="
          },
          "RefSeq": {
            "hgvs": "NP_004516.2:p.Tyr2522="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7762,
          "referenceAllele": "T",
          "start": 7761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511183.3:c.7564T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509485.1:p.Tyr2522="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5290,
          "referenceAllele": "T",
          "start": 5289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511184.2:c.5275T="
      ],
      "proteinEffect": {
        "hgvs": "XP_011509486.1:p.Tyr1759="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542037"
    }
  ],
  "type": "nucleotide"
}