{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204964",
  "communityStandardTitle": [
    "NM_032737.4(LMNB2):c.469C>T (p.His157Tyr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205535[alleleid]",
        "alleleId": 205535,
        "preferredName": "NM_032737.4(LMNB2):c.469C>T (p.His157Tyr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208980",
        "RCV": [
          "RCV000190899"
        ],
        "variationId": 208980
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.2438462G>A?assembly=hg19",
        "id": "chr19:g.2438462G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.2438464G>A?assembly=hg38",
        "id": "chr19:g.2438464G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045143",
        "rs": 797045143
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2438464,
          "referenceAllele": "G",
          "start": 2438463
        }
      ],
      "hgvs": [
        "NC_000019.10:g.2438464G>A",
        "CM000681.2:g.2438464G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2438462,
          "referenceAllele": "G",
          "start": 2438461
        }
      ],
      "hgvs": [
        "NC_000019.9:g.2438462G>A",
        "CM000681.1:g.2438462G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 2389462,
          "referenceAllele": "G",
          "start": 2389461
        }
      ],
      "hgvs": [
        "NC_000019.8:g.2389462G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23497,
          "referenceAllele": "C",
          "start": 23496
        }
      ],
      "hgvs": [
        "NG_008355.1:g.23497C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001051"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "ENST00000325327.4:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327054.3:p.His157Tyr",
        "hgvsWellDefined": "ENSP00000327054.3:p.His157Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746691",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325327.4:c.469C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032737.4:c.469C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327054.3:p.His157Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_116126.3:p.His157Tyr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 532,
          "referenceAllele": "C",
          "start": 531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "ENST00000325327.3:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000327054.3:p.His157Tyr",
        "hgvsWellDefined": "ENSP00000327054.3:p.His157Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204965",
      "coordinates": [
        {
          "allele": "T",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "NM_032737.3:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116126.3:p.His157Tyr",
        "hgvsWellDefined": "NP_116126.3:p.His157Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039274"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 487,
          "referenceAllele": "C",
          "start": 486
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "XM_011528378.1:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526680.1:p.His157Tyr",
        "hgvsWellDefined": "XP_011526680.1:p.His157Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095449"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204965",
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006638",
      "geneNCBI_id": 84823,
      "geneSymbol": "LMNB2",
      "hgvs": [
        "NM_032737.4:c.469C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116126.3:p.His157Tyr",
        "hgvsWellDefined": "NP_116126.3:p.His157Tyr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS671394",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000325327.4:c.469C>T"
          },
          "RefSeq": {
            "hgvs": "NM_032737.4:c.469C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000327054.3:p.His157Tyr"
          },
          "RefSeq": {
            "hgvs": "NP_116126.3:p.His157Tyr"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}