{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340917",
  "communityStandardTitle": [
    "NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24496[alleleid]",
        "alleleId": 24496,
        "preferredName": "NM_004525.3(LRP2):c.1093C>T (p.Arg365Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9457",
        "RCV": [
          "RCV000010065",
          "RCV002298439"
        ],
        "variationId": 9457
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.170139461G>A?assembly=hg19",
        "id": "chr2:g.170139461G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.169282951G>A?assembly=hg38",
        "id": "chr2:g.169282951G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/80338744",
        "rs": 80338744
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-169282951-G-A?dataset=gnomad_r4",
        "id": "2-169282951-G-A",
        "variant": "2:169282951 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169282951,
          "referenceAllele": "G",
          "start": 169282950
        }
      ],
      "hgvs": [
        "NC_000002.12:g.169282951G>A",
        "CM000664.2:g.169282951G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 170139461,
          "referenceAllele": "G",
          "start": 170139460
        }
      ],
      "hgvs": [
        "NC_000002.11:g.170139461G>A",
        "CM000664.1:g.170139461G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 169847707,
          "referenceAllele": "G",
          "start": 169847706
        }
      ],
      "hgvs": [
        "NC_000002.10:g.169847707G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 84662,
          "referenceAllele": "C",
          "start": 84661
        }
      ],
      "hgvs": [
        "NG_012634.1:g.84662C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002489"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000649046.1:c.1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496870.1:p.Arg365Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649046.1:c.1093C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004525.3:c.1093C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496870.1:p.Arg365Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004516.2:p.Arg365Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1379,
          "referenceAllele": "C",
          "start": 1378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000263816.7:c.1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000263816.3:p.Arg365Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "ENST00000443831.1:c.1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409813.1:p.Arg365Ter",
        "hgvsWellDefined": "ENSP00000409813.1:p.Arg365_Phe1225delinsProGlyArgHisLeuCysHisCysGluGluGlyTyrIleLeuGluArgGlyGlnTyrCysLysAlaAsnAspSerPheGlyGluAlaSerIleIlePheSerAsnGlyArgAspLeuLeuIleGlyAspIleHisGlyArgSerPheArgIleLeuValGluSerGlnAsnArgGlyValAlaValGlyValAlaPheHisTyrHisLeuGlnArgValPheTrpThrAspThrValGlnAsnLysValPheSerValAspIleAsnGlyLeuAsnIleGlnGluValLeuAsnValSerValGluThrProGluAsnLeuAlaValAspTrpValAsnAsnLysIleTyrLeuValGluThrLysValAsnArgIleAspMetValAsnLeuAspGlySerTyrArgValThrLeuIleThrGluAsnLeuGlyHisProArgGlyIleAlaValAspProThrValGlyLysThrValValHisGlyGlySerLeuIleProHisProPheGlyValSerLeuPheGluGlyGlnValPhePheThrAspTrpThrLysMetAlaValLeuLysAlaAsnLysPheThrGluThrAsnProGlnValTyrTyrGlnAlaSerLeuArgProTyrGlyValThrValTyrHisSerLeuArgGlnProTyrAlaThrAsnProCysLysAspAsnAsnGlyGlyCysGluGlnValCysValLeuSerHisArgThrAspAsnAspGlyLeuGlyPheArgCysLysCysThrPheGlyPheGlnLeuAspThrAspGluArgHisCysIleGlyArgGluIleLeuAlaAlaAsnArgValGluAsnValGluSerLeuAlaPheAspTrpIleSerLysAsnLeuTyrTrpThrAspSerHisTyrLysSerIleSerValMetArgLeuAlaAspLysThrArgArgThrValValGlnTyrLeuAsnAsnProArgSerValValValHisProPheAlaGlyTyrLeuPhePheThrAspTrpPheArgProAlaLysIleMetArgAlaTrpSerAspGlySerHisLeuLeuProValIleAsnThrThrLeuGlyTrpProAsnGlyLeuAlaIleAspTrpAlaAlaSerArgLeuTyrTrpValAspAlaTyrPheAspLysIleGluHisSerThrPheAspGlyLeuAspArgArgArgLeuGlyHisIleGluGlnMetThrHisProPheGlyLeuAlaIlePheGlyGluHisLeuPhePheThrAspTrpArgLeuGlyAlaIleIleArgValArgLysAlaAspGlyGlyGluMetThrValIleArgSerGlyIleAlaTyrIleLeuHisLeuLysSerTyrAspValAsnIleGlnThrGlySerAsnAlaCysAsnGlnProThrHisProAsnGlyAspCysSerHisPheCysPheProValProAsnPheGlnArgValCysGlyCysProTyrGlyMetArgLeuAlaSerAsnHisLeuThrCysGluGlyAspProThrAsnGluProProThrGluGlnCysGlyLeuPheSerPheProCysLysAsnGlyArgCysValProAsnTyrTyrLeuCysAspGlyValAspAspCysHisAspAsnSerAspGluGlnLeuCysGlyThrLeuAsnAsnThrCysSerSerSerAlaPheThrCysGlyHisGlyGluCysIleProAlaHisTrpArgCysAspLysArgAsnAspCysValAspGlySerAspGluHisAsnCysProThrHisAlaProAlaSerCysLeuAspThrGlnTyrThrCysAspAsnHisGlnCysIleSerLysAsnTrpValCysAspThrAspAsnAspCysGlyAspGlySerAspGluLysAsnCysAsnSerThrGluThrCysGlnProSerGlnPheAsnCysProAsnHisArgCysIleAspLeuSerPheValCysAspGlyAspLysAspCysValAspGlySerAspGluValGlyCysValLeuAsnCysThrAlaSerGlnPheLysCysAlaSerGlyAspLysCysIleGlyValThrAsnArgCysAspGlyValPheAspCysSerAspAsnSerAspGluAlaGlyCysProThrArgProProGlyMetCysHisSerAspGluPheGlnCysGlnGluAspGlyIleCysIleProAsnPheTrpGluCysAspGlyHisProAspCysLeuTyrGlySerAspGluHisAsnAlaCysValProLysThrCysProSerSerTyrPheHisCysAspAsnGlyAsnCysIleHisArgAlaTrpLeuCysAspArgAspAsnAspCysGlyAspMetSerAspGluLysAspCysProThrGlnProPheArgCysProSerTrpGlnTrpGlnCysLeuGlyHisAsnIleCysValAsnLeuSerValValCysAspGlyIlePheAspCysProAsnGlyThrAspGluSerProLeuCysSerLysPheProAspHisSerLeuLeuAlaIleAsnSerPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1306,
          "referenceAllele": "C",
          "start": 1305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "NM_004525.2:c.1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004516.2:p.Arg365Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511183.1:c.1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509485.1:p.Arg365Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511185.1:c.1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509487.1:p.Arg365Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1228,
          "referenceAllele": "C",
          "start": 1227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "NM_004525.3:c.1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004516.2:p.Arg365Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525222",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000649046.1:c.1093C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004525.3:c.1093C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496870.1:p.Arg365Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004516.2:p.Arg365Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1291,
          "referenceAllele": "C",
          "start": 1290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006694",
      "geneNCBI_id": 4036,
      "geneSymbol": "LRP2",
      "hgvs": [
        "XM_011511183.3:c.1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509485.1:p.Arg365Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542036"
    }
  ],
  "type": "nucleotide"
}