{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA281516",
  "communityStandardTitle": [
    "NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15564[alleleid]",
        "alleleId": 15564,
        "preferredName": "NM_001999.4(FBN2):c.3343G>C (p.Asp1115His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/525",
        "RCV": [
          "RCV000000554"
        ],
        "variationId": 525
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.127680077C>G?assembly=hg19",
        "id": "chr5:g.127680077C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.128344385C>G?assembly=hg38",
        "id": "chr5:g.128344385C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/137852827",
        "rs": 137852827
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 128344385,
          "referenceAllele": "C",
          "start": 128344384
        }
      ],
      "hgvs": [
        "NC_000005.10:g.128344385C>G",
        "CM000667.2:g.128344385C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 127680077,
          "referenceAllele": "C",
          "start": 127680076
        }
      ],
      "hgvs": [
        "NC_000005.9:g.127680077C>G",
        "CM000667.1:g.127680077C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 127707976,
          "referenceAllele": "C",
          "start": 127707975
        }
      ],
      "hgvs": [
        "NC_000005.8:g.127707976C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 198659,
          "referenceAllele": "G",
          "start": 198658
        }
      ],
      "hgvs": [
        "NG_008750.1:g.198659G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001199"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3985,
          "referenceAllele": "G",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000262464.9:c.3343G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262464.4:p.Asp1115His",
        "hgvsWellDefined": "ENSP00000262464.4:p.Asp1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742354",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.3343G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.3343G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:p.Asp1115His"
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:p.Asp1115His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3782,
          "referenceAllele": "G",
          "start": 3781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000262464.8:c.3343G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262464.4:p.Asp1115His",
        "hgvsWellDefined": "ENSP00000262464.4:p.Asp1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4318,
          "referenceAllele": "G",
          "start": 4317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000508053.5:c.3343G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424571.1:p.Asp1115His",
        "hgvsWellDefined": "ENSP00000424571.1:p.Asp1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3462,
          "referenceAllele": "G",
          "start": 3461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000508989.5:c.3244G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425596.1:p.Asp1082His",
        "hgvsWellDefined": "ENSP00000425596.1:p.Asp1082His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3340,
          "referenceAllele": "G",
          "start": 3339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000619499.4:c.3340G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482132.1:p.Asp1114His",
        "hgvsWellDefined": "ENSP00000482132.1:p.Asp1114His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101640",
      "coordinates": [
        {
          "allele": "C",
          "end": 3782,
          "referenceAllele": "G",
          "start": 3781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NM_001999.3:c.3343G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001990.2:p.Asp1115His",
        "hgvsWellDefined": "NP_001990.2:p.Asp1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3464,
          "referenceAllele": "G",
          "start": 3463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "XM_017009228.2:c.3190G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864717.1:p.Asp1064His",
        "hgvsWellDefined": "XP_016864717.1:p.Asp1064His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA101640",
      "coordinates": [
        {
          "allele": "C",
          "end": 3985,
          "referenceAllele": "G",
          "start": 3984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NM_001999.4:c.3343G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001990.2:p.Asp1115His",
        "hgvsWellDefined": "NP_001990.2:p.Asp1115His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.3343G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.3343G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:p.Asp1115His"
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:p.Asp1115His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}