{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA9067535",
  "communityStandardTitle": [
    "NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=532803[alleleid]",
        "alleleId": 532803,
        "preferredName": "NM_032737.4(LMNB2):c.1312C>T (p.Arg438Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/542438",
        "RCV": [
          "RCV000652861",
          "RCV004025889"
        ],
        "variationId": 542438
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/19-2433994-G-A",
        "id": "19-2433994-G-A",
        "variant": "19:2433994 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.2433994G>A?assembly=hg19",
        "id": "chr19:g.2433994G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.2433996G>A?assembly=hg38",
        "id": "chr19:g.2433996G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780728738",
        "rs": 780728738
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-2433994-G-A?dataset=gnomad_r2_1",
        "id": "19-2433994-G-A",
        "variant": "19:2433994 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-2433996-G-A?dataset=gnomad_r3",
        "id": "19-2433996-G-A",
        "variant": "19:2433996 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-2433996-G-A?dataset=gnomad_r4",
        "id": "19-2433996-G-A",
        "variant": "19:2433996 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2433996,
          "referenceAllele": "G",
          "start": 2433995
        }
      ],
      "hgvs": [
        "NC_000019.10:g.2433996G>A",
        "CM000681.2:g.2433996G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2433994,
          "referenceAllele": "G",
          "start": 2433993
        }
      ],
      "hgvs": [
        "NC_000019.9:g.2433994G>A",
        "CM000681.1:g.2433994G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2384994,
          "referenceAllele": "G",
          "start": 2384993
        }
      ],
      "hgvs": [
        "NC_000019.8:g.2384994G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 27965,
          "referenceAllele": "C",
          "start": 27964
        }
      ],
      "hgvs": [
        "NG_008355.1:g.27965C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001051"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "C",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "ENST00000325327.4:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327054.3:p.Arg438Trp",
        "hgvsWellDefined": "ENSP00000327054.3:p.Arg438Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325327.4:c.1312C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032737.4:c.1312C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327054.3:p.Arg438Trp"
          },
          "RefSeq": {
            "hgvs": "NP_116126.3:p.Arg438Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "C",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "ENST00000325327.3:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327054.3:p.Arg438Trp",
        "hgvsWellDefined": "ENSP00000327054.3:p.Arg438Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "ENST00000490554.5:n.503C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658818629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1347,
          "referenceAllele": "C",
          "start": 1346
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "NM_032737.3:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116126.3:p.Arg438Trp",
        "hgvsWellDefined": "NP_116126.3:p.Arg438Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1330,
          "referenceAllele": "C",
          "start": 1329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "XM_011528378.1:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526680.1:p.Arg438Trp",
        "hgvsWellDefined": "XP_011526680.1:p.Arg438Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095449"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "XM_011528379.1:c.964C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526681.1:p.Arg322Trp",
        "hgvsWellDefined": "XP_011526681.1:p.Arg322Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095450"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658818629",
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "C",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "NM_032737.4:c.1312C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116126.3:p.Arg438Trp",
        "hgvsWellDefined": "NP_116126.3:p.Arg438Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325327.4:c.1312C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032737.4:c.1312C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327054.3:p.Arg438Trp"
          },
          "RefSeq": {
            "hgvs": "NP_116126.3:p.Arg438Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}