{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA017236",
  "communityStandardTitle": [
    "NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=197603[alleleid]",
        "alleleId": 197603,
        "preferredName": "NM_000138.5(FBN1):c.7529A>G (p.Lys2510Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/200114",
        "RCV": [
          "RCV000181604",
          "RCV000536239",
          "RCV003993866",
          "RCV003996698"
        ],
        "variationId": 200114
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-48714190-T-C",
        "id": "15-48714190-T-C",
        "variant": "15:48714190 T / C"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48714190T>C?assembly=hg19",
        "id": "chr15:g.48714190T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.48421993T>C?assembly=hg38",
        "id": "chr15:g.48421993T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/767602851",
        "rs": 767602851
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48714190-T-C?dataset=gnomad_r2_1",
        "id": "15-48714190-T-C",
        "variant": "15:48714190 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48421993-T-C?dataset=gnomad_r3",
        "id": "15-48421993-T-C",
        "variant": "15:48421993 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-48421993-T-C?dataset=gnomad_r4",
        "id": "15-48421993-T-C",
        "variant": "15:48421993 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48421993,
          "referenceAllele": "T",
          "start": 48421992
        }
      ],
      "hgvs": [
        "NC_000015.10:g.48421993T>C",
        "CM000677.2:g.48421993T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 48714190,
          "referenceAllele": "T",
          "start": 48714189
        }
      ],
      "hgvs": [
        "NC_000015.9:g.48714190T>C",
        "CM000677.1:g.48714190T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 46501482,
          "referenceAllele": "T",
          "start": 46501481
        }
      ],
      "hgvs": [
        "NC_000015.8:g.46501482T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228796,
          "referenceAllele": "A",
          "start": 228795
        }
      ],
      "hgvs": [
        "NG_008805.2:g.228796A>G",
        "LRG_778:g.228796A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001224"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7907,
          "referenceAllele": "A",
          "start": 7906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.6:c.*337A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453958.2:n.*337A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8012,
          "referenceAllele": "A",
          "start": 8011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.2:c.*1042A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.2:n.*1042A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914454"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1710,
          "referenceAllele": "A",
          "start": 1709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682170.1:n.1710A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827167"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "A",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000682767.1:n.826A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7845,
          "referenceAllele": "A",
          "start": 7844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.10:c.7529A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Lys2510Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Lys2510Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746076",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7529A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7529A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Lys2510Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Lys2510Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2695,
          "referenceAllele": "A",
          "start": 2694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000674301.1:c.2695A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501333.1:n.2695A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774292"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7985,
          "referenceAllele": "A",
          "start": 7984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000316623.9:c.7529A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000325527.5:p.Lys2510Arg",
        "hgvsWellDefined": "ENSP00000325527.5:p.Lys2510Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247158"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2898,
          "referenceAllele": "A",
          "start": 2897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "ENST00000559133.5:c.2898A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374338"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304280",
      "coordinates": [
        {
          "allele": "G",
          "end": 7924,
          "referenceAllele": "A",
          "start": 7923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.4:c.7529A>G",
        "LRG_778t1:c.7529A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Lys2510Arg",
        "hgvsWellDefined": "NP_000129.3:p.Lys2510Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006200"
    },
    {
      "@id": "http://reg.genome.network/allele/PA304280",
      "coordinates": [
        {
          "allele": "G",
          "end": 7845,
          "referenceAllele": "A",
          "start": 7844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003603",
      "geneNCBI_id": 2200,
      "geneSymbol": "FBN1",
      "hgvs": [
        "NM_000138.5:c.7529A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000129.3:p.Lys2510Arg",
        "hgvsWellDefined": "NP_000129.3:p.Lys2510Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674722",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000316623.10:c.7529A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000138.5:c.7529A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325527.5:p.Lys2510Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000129.3:p.Lys2510Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}