{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342047",
  "communityStandardTitle": [
    "NM_004525.3(LRP2):c.770-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34272[alleleid]",
        "alleleId": 34272,
        "preferredName": "NM_004525.3(LRP2):c.770-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21420",
        "RCV": [
          "RCV000020605"
        ],
        "variationId": 21420
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.170147509T>C?assembly=hg19",
        "id": "chr2:g.170147509T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169290999T>C?assembly=hg38",
        "id": "chr2:g.169290999T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338743",
        "rs": 80338743
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 169290999,
          "referenceAllele": "T",
          "start": 169290998
        }
      ],
      "hgvs": [
        "NC_000002.12:g.169290999T>C",
        "CM000664.2:g.169290999T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 170147509,
          "referenceAllele": "T",
          "start": 170147508
        }
      ],
      "hgvs": [
        "NC_000002.11:g.170147509T>C",
        "CM000664.1:g.170147509T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 169855755,
          "referenceAllele": "T",
          "start": 169855754
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169855755T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 76614,
          "referenceAllele": "A",
          "start": 76613
        }
      ],
      "hgvs": [
        "NG_012634.1:g.76614A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000649046.1:c.770-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496870.1:n.770-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649046.1:c.770-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004525.3:c.770-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496870.1:n.770-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004516.2:n.770-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1055,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1055,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000263816.7:c.770-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263816.3:n.770-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251350"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000443831.1:c.770-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409813.1:n.770-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 982,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 982,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "NM_004525.2:c.770-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004516.2:n.770-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 983,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511183.1:c.770-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509485.1:n.770-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078444"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 983,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 983,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511185.1:c.770-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509487.1:n.770-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078446"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 904,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 904,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "NM_004525.3:c.770-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004516.2:n.770-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649046.1:c.770-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_004525.3:c.770-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496870.1:n.770-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_004516.2:n.770-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 967,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 967,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511183.3:c.770-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509485.1:n.770-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542036"
    }
  ],
  "type": "nucleotide"
}