{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340912",
  "communityStandardTitle": [
    "NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840CysfsTer?)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24492[alleleid]",
        "alleleId": 24492,
        "preferredName": "NM_004525.3(LRP2):c.8519_8522del (p.Tyr2840fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9453",
        "RCV": [
          "RCV000010061"
        ],
        "variationId": 9453
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.170055355_170055358del?assembly=hg19",
        "id": "chr2:g.170055355_170055358del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169198845_169198848del?assembly=hg38",
        "id": "chr2:g.169198845_169198848del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338749",
        "rs": 80338749
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 169198848,
          "referenceAllele": "TAAA",
          "start": 169198844
        }
      ],
      "hgvs": [
        "NC_000002.12:g.169198845_169198848del",
        "CM000664.2:g.169198845_169198848del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 170055358,
          "referenceAllele": "TAAA",
          "start": 170055354
        }
      ],
      "hgvs": [
        "NC_000002.11:g.170055355_170055358del",
        "CM000664.1:g.170055355_170055358del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "",
          "end": 169763604,
          "referenceAllele": "TAAA",
          "start": 169763600
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169763601_169763604del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 168771,
          "referenceAllele": "TATT",
          "start": 168767
        }
      ],
      "hgvs": [
        "NG_012634.1:g.168768_168771del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8657,
          "referenceAllele": "TATT",
          "start": 8653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000649046.1:c.8519_8522del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496870.1:p.Tyr2840CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649046.1:c.8519_8522del"
          },
          "RefSeq": {
            "hgvs": "NM_004525.3:c.8519_8522del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496870.1:p.Tyr2840CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004516.2:p.Tyr2840CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8808,
          "referenceAllele": "TATT",
          "start": 8804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000263816.7:c.8519_8522del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263816.3:p.Tyr2840CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251350"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8735,
          "referenceAllele": "TATT",
          "start": 8731
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "NM_004525.2:c.8519_8522del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004516.2:p.Tyr2840CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029683"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8736,
          "referenceAllele": "TATT",
          "start": 8732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511183.1:c.8519_8522del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509485.1:p.Tyr2840CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078444"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6248,
          "referenceAllele": "TATT",
          "start": 6244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511184.1:c.6230_6233del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509486.1:p.Tyr2077CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078445"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8736,
          "referenceAllele": "TATT",
          "start": 8732
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511185.1:c.8519_8522del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509487.1:p.Tyr2840CysfsTer?",
        "hgvsWellDefined": "XP_011509487.1:p.[Tyr2840_Thr2860delinsCysValThrGluThrMetThrValGluIleThrValMetLysThrLeuLeuIleAlaProLeu;His2862_Ser2866delinsArgAlaAlaAlaVal;Glu2868_Gln2870delinsSerAsn]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078446"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8657,
          "referenceAllele": "TATT",
          "start": 8653
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "NM_004525.3:c.8519_8522del"
      ],
      "proteinEffect": {
        "hgvs": "NP_004516.2:p.Tyr2840CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649046.1:c.8519_8522del"
          },
          "RefSeq": {
            "hgvs": "NM_004525.3:c.8519_8522del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496870.1:p.Tyr2840CysfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_004516.2:p.Tyr2840CysfsTer?"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 8720,
          "referenceAllele": "TATT",
          "start": 8716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511183.3:c.8519_8522del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509485.1:p.Tyr2840CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542036"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 6248,
          "referenceAllele": "TATT",
          "start": 6244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511184.2:c.6230_6233del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509486.1:p.Tyr2077CysfsTer?"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542037"
    }
  ],
  "type": "nucleotide"
}