{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA017303",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197596[alleleid]",
        "alleleId": 197596,
        "preferredName": "NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200119",
        "RCV": [
          "RCV000549612"
        ],
        "variationId": 200119
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48713830G>A?assembly=hg19",
        "id": "chr15:g.48713830G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48421633G>A?assembly=hg38",
        "id": "chr15:g.48421633G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/794728276",
        "rs": 794728276
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48421633,
          "referenceAllele": "G",
          "start": 48421632
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48421633G>A",
        "CM000677.2:g.48421633G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 48713830,
          "referenceAllele": "G",
          "start": 48713829
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48713830G>A",
        "CM000677.1:g.48713830G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 46501122,
          "referenceAllele": "G",
          "start": 46501121
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46501122G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 229156,
          "referenceAllele": "C",
          "start": 229155
        }
      ],
      "hgvs": [
        "NG_008805.2:g.229156C>T",
        "LRG_778:g.229156C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8002,
          "referenceAllele": "C",
          "start": 8001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.*432C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:n.*432C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8107,
          "referenceAllele": "C",
          "start": 8106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*1137C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*1137C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1805,
          "referenceAllele": "C",
          "start": 1804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.1805C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 921,
          "referenceAllele": "C",
          "start": 920
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.921C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7940,
          "referenceAllele": "C",
          "start": 7939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.7624C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Gln2542Ter",
        "hgvsWellDefined": "ENSP00000325527.5:p.Gln2542_His2871delinsAsnThrProGlySerPheThrCysGluCysGlnArgGlyPheSerLeuAspGlnThrGlySerSerCysGluAspValAspGluCysGluGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleIleGlyGlyTyrArgCysSerCysProGlnGlyTyrLeuGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysLeuSerAlaHisIleCysGlyGlyAlaSerCysHisAsnThrLeuGlySerTyrLysCysMetCysProAlaGlyPheGlnTyrGluGlnPheSerGlyGlyCysGlnAspIleAsnGluCysGlySerAlaGlnAlaProCysSerTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrPheArgIleGlyGlnGlyHisCysValSerGlyMetGlyMetGlyArgGlyAsnProGluProProValSerGlyGluMetAspAspAsnSerLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrProLysArgGlyArgLysArgArgSerThrAsnGluThrAspAlaSerAsnIleGluAspGlnSerGluThrGluAlaAsnValSerLeuAlaSerTrpAspValGluLysThrAlaIlePheAlaPheAsnIleSerHisValSerAsnLysValArgIleLeuGluLeuLeuProAlaLeuThrThrLeuThrAsnHisAsnArgTyrLeuIleGluSerGlyAsnGluAspGlyPhePheLysIleAsnGlnLysGluGlyIleSerTyrLeuHisPheThrLysLysLysProValAlaGlyThrTyrSerLeuGlnIleSerSerThrProLeuTyrLysLysLysGluLeuAsnGlnLeuGluAspLysTyrAspLysAspTyrLeuSerGlyGluLeuGlyAspAsnLeuLysMetLysIleGlnValLeuLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7624C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7624C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gln2542Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gln2542Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2790,
          "referenceAllele": "C",
          "start": 2789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.2790C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.2790C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8080,
          "referenceAllele": "C",
          "start": 8079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.7624C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Gln2542Ter",
        "hgvsWellDefined": "ENSP00000325527.5:p.Gln2542_His2871delinsAsnThrProGlySerPheThrCysGluCysGlnArgGlyPheSerLeuAspGlnThrGlySerSerCysGluAspValAspGluCysGluGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleIleGlyGlyTyrArgCysSerCysProGlnGlyTyrLeuGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysLeuSerAlaHisIleCysGlyGlyAlaSerCysHisAsnThrLeuGlySerTyrLysCysMetCysProAlaGlyPheGlnTyrGluGlnPheSerGlyGlyCysGlnAspIleAsnGluCysGlySerAlaGlnAlaProCysSerTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrPheArgIleGlyGlnGlyHisCysValSerGlyMetGlyMetGlyArgGlyAsnProGluProProValSerGlyGluMetAspAspAsnSerLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrProLysArgGlyArgLysArgArgSerThrAsnGluThrAspAlaSerAsnIleGluAspGlnSerGluThrGluAlaAsnValSerLeuAlaSerTrpAspValGluLysThrAlaIlePheAlaPheAsnIleSerHisValSerAsnLysValArgIleLeuGluLeuLeuProAlaLeuThrThrLeuThrAsnHisAsnArgTyrLeuIleGluSerGlyAsnGluAspGlyPhePheLysIleAsnGlnLysGluGlyIleSerTyrLeuHisPheThrLysLysLysProValAlaGlyThrTyrSerLeuGlnIleSerSerThrProLeuTyrLysLysLysGluLeuAsnGlnLeuGluAspLysTyrAspLysAspTyrLeuSerGlyGluLeuGlyAspAsnLeuLysMetLysIleGlnValLeuLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2993,
          "referenceAllele": "C",
          "start": 2992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.2993C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304290",
      "coordinates": [
        {
          "allele": "T",
          "end": 8019,
          "referenceAllele": "C",
          "start": 8018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.7624C>T",
        "LRG_778t1:c.7624C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gln2542Ter",
        "hgvsWellDefined": "NP_000129.3:p.Gln2542_His2871delinsAsnThrProGlySerPheThrCysGluCysGlnArgGlyPheSerLeuAspGlnThrGlySerSerCysGluAspValAspGluCysGluGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleIleGlyGlyTyrArgCysSerCysProGlnGlyTyrLeuGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysLeuSerAlaHisIleCysGlyGlyAlaSerCysHisAsnThrLeuGlySerTyrLysCysMetCysProAlaGlyPheGlnTyrGluGlnPheSerGlyGlyCysGlnAspIleAsnGluCysGlySerAlaGlnAlaProCysSerTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrPheArgIleGlyGlnGlyHisCysValSerGlyMetGlyMetGlyArgGlyAsnProGluProProValSerGlyGluMetAspAspAsnSerLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrProLysArgGlyArgLysArgArgSerThrAsnGluThrAspAlaSerAsnIleGluAspGlnSerGluThrGluAlaAsnValSerLeuAlaSerTrpAspValGluLysThrAlaIlePheAlaPheAsnIleSerHisValSerAsnLysValArgIleLeuGluLeuLeuProAlaLeuThrThrLeuThrAsnHisAsnArgTyrLeuIleGluSerGlyAsnGluAspGlyPhePheLysIleAsnGlnLysGluGlyIleSerTyrLeuHisPheThrLysLysLysProValAlaGlyThrTyrSerLeuGlnIleSerSerThrProLeuTyrLysLysLysGluLeuAsnGlnLeuGluAspLysTyrAspLysAspTyrLeuSerGlyGluLeuGlyAspAsnLeuLysMetLysIleGlnValLeuLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304290",
      "coordinates": [
        {
          "allele": "T",
          "end": 7940,
          "referenceAllele": "C",
          "start": 7939
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.7624C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Gln2542Ter",
        "hgvsWellDefined": "NP_000129.3:p.Gln2542_His2871delinsAsnThrProGlySerPheThrCysGluCysGlnArgGlyPheSerLeuAspGlnThrGlySerSerCysGluAspValAspGluCysGluGlyAsnHisArgCysGlnHisGlyCysGlnAsnIleIleGlyGlyTyrArgCysSerCysProGlnGlyTyrLeuGlnHisTyrGlnTrpAsnGlnCysValAspGluAsnGluCysLeuSerAlaHisIleCysGlyGlyAlaSerCysHisAsnThrLeuGlySerTyrLysCysMetCysProAlaGlyPheGlnTyrGluGlnPheSerGlyGlyCysGlnAspIleAsnGluCysGlySerAlaGlnAlaProCysSerTyrGlyCysSerAsnThrGluGlyGlyTyrLeuCysGlyCysProProGlyTyrPheArgIleGlyGlnGlyHisCysValSerGlyMetGlyMetGlyArgGlyAsnProGluProProValSerGlyGluMetAspAspAsnSerLeuSerProGluAlaCysTyrGluCysLysIleAsnGlyTyrProLysArgGlyArgLysArgArgSerThrAsnGluThrAspAlaSerAsnIleGluAspGlnSerGluThrGluAlaAsnValSerLeuAlaSerTrpAspValGluLysThrAlaIlePheAlaPheAsnIleSerHisValSerAsnLysValArgIleLeuGluLeuLeuProAlaLeuThrThrLeuThrAsnHisAsnArgTyrLeuIleGluSerGlyAsnGluAspGlyPhePheLysIleAsnGlnLysGluGlyIleSerTyrLeuHisPheThrLysLysLysProValAlaGlyThrTyrSerLeuGlnIleSerSerThrProLeuTyrLysLysLysGluLeuAsnGlnLeuGluAspLysTyrAspLysAspTyrLeuSerGlyGluLeuGlyAspAsnLeuLysMetLysIleGlnValLeuLeuHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7624C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7624C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Gln2542Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Gln2542Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}