{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA360750969",
  "communityStandardTitle": [
    "NM_001999.4(FBN2):c.1124G>C (p.Cys375Ser)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.127730922C>G?assembly=hg19",
        "id": "chr5:g.127730922C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr5:g.128395229C>G?assembly=hg38",
        "id": "chr5:g.128395229C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 128395229,
          "referenceAllele": "C",
          "start": 128395228
        }
      ],
      "hgvs": [
        "NC_000005.10:g.128395229C>G",
        "CM000667.2:g.128395229C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000053"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 127730922,
          "referenceAllele": "C",
          "start": 127730921
        }
      ],
      "hgvs": [
        "NC_000005.9:g.127730922C>G",
        "CM000667.1:g.127730922C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000029"
    },
    {
      "chromosome": "5",
      "coordinates": [
        {
          "allele": "G",
          "end": 127758821,
          "referenceAllele": "C",
          "start": 127758820
        }
      ],
      "hgvs": [
        "NC_000005.8:g.127758821C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000005"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 147814,
          "referenceAllele": "G",
          "start": 147813
        }
      ],
      "hgvs": [
        "NG_008750.1:g.147814G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001199"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 831,
          "referenceAllele": "G",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000703787.1:n.831G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS911947"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "G",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000262464.9:c.1124G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262464.4:p.Cys375Ser",
        "hgvsWellDefined": "ENSP00000262464.4:p.Cys375Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742354",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.1124G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.1124G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:p.Cys375Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:p.Cys375Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000262464.8:c.1124G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262464.4:p.Cys375Ser",
        "hgvsWellDefined": "ENSP00000262464.4:p.Cys375Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2099,
          "referenceAllele": "G",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000508053.5:c.1124G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000424571.1:p.Cys375Ser",
        "hgvsWellDefined": "ENSP00000424571.1:p.Cys375Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339174"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1243,
          "referenceAllele": "G",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000508989.5:c.1025G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425596.1:p.Cys342Ser",
        "hgvsWellDefined": "ENSP00000425596.1:p.Cys342Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS339865"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1121,
          "referenceAllele": "G",
          "start": 1120
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "ENST00000619499.4:c.1121G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482132.1:p.Cys374Ser",
        "hgvsWellDefined": "ENSP00000482132.1:p.Cys374Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404402"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071254675",
      "coordinates": [
        {
          "allele": "C",
          "end": 1563,
          "referenceAllele": "G",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NM_001999.3:c.1124G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001990.2:p.Cys375Ser",
        "hgvsWellDefined": "NP_001990.2:p.Cys375Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027325"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1352,
          "endIntronDirection": "-",
          "endIntronOffset": 1860,
          "referenceAllele": "G",
          "start": 1352,
          "startIntronDirection": "-",
          "startIntronOffset": 1861
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "XM_017009228.2:c.1079-1861G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016864717.1:n.1079-1861G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS563582"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3071254675",
      "coordinates": [
        {
          "allele": "C",
          "end": 1766,
          "referenceAllele": "G",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003604",
      "geneNCBI_id": 2201,
      "geneSymbol": "FBN2",
      "hgvs": [
        "NM_001999.4:c.1124G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001990.2:p.Cys375Ser",
        "hgvsWellDefined": "NP_001990.2:p.Cys375Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665294",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262464.9:c.1124G>C"
          },
          "RefSeq": {
            "hgvs": "NM_001999.4:c.1124G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262464.4:p.Cys375Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001990.2:p.Cys375Ser"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}