{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA021349",
  "communityStandardTitle": [
    "NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18335[alleleid]",
        "alleleId": 18335,
        "preferredName": "NM_000268.4(NF2):c.1579G>T (p.Glu527Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3296",
        "RCV": [
          "RCV000003457"
        ],
        "variationId": 3296
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.30077432G>T?assembly=hg19",
        "id": "chr22:g.30077432G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29681443G>T?assembly=hg38",
        "id": "chr22:g.29681443G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/74315505",
        "rs": 74315505
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-30077432-G-T?dataset=gnomad_r2_1",
        "id": "22-30077432-G-T",
        "variant": "22:30077432 G / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/22-29681443-G-T?dataset=gnomad_r4",
        "id": "22-29681443-G-T",
        "variant": "22:29681443 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 29681443,
          "referenceAllele": "G",
          "start": 29681442
        }
      ],
      "hgvs": [
        "NC_000022.11:g.29681443G>T",
        "CM000684.2:g.29681443G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 30077432,
          "referenceAllele": "G",
          "start": 30077431
        }
      ],
      "hgvs": [
        "NC_000022.10:g.30077432G>T",
        "CM000684.1:g.30077432G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 28407432,
          "referenceAllele": "G",
          "start": 28407431
        }
      ],
      "hgvs": [
        "NC_000022.9:g.28407432G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82888,
          "referenceAllele": "G",
          "start": 82887
        }
      ],
      "hgvs": [
        "NG_009057.1:g.82888G>T",
        "LRG_511:g.82888G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001399"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1810,
          "referenceAllele": "G",
          "start": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.10:c.1444G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.6:p.Glu482Ter",
        "hgvsWellDefined": "ENSP00000354529.6:p.Glu482_Leu550delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "G",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000673312.2:c.*1073G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500186.2:n.*1073G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000338641.10:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344666.5:p.Glu527Ter",
        "hgvsWellDefined": "ENSP00000344666.5:p.Glu527_Leu595delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338641.10:c.1579G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000268.4:c.1579G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344666.5:p.Glu527Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000259.1:p.Glu527Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 997,
          "referenceAllele": "G",
          "start": 996
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.9:c.997G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.5:p.Glu333Ter",
        "hgvsWellDefined": "ENSP00000354529.5:p.Glu333_Leu401delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1975,
          "referenceAllele": "G",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672461.1:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500919.1:p.Glu527Ter",
        "hgvsWellDefined": "ENSP00000500919.1:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2126,
          "referenceAllele": "G",
          "start": 2125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672805.1:c.*1461G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500295.1:n.*1461G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672896.1:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500117.1:p.Glu527Ter",
        "hgvsWellDefined": "ENSP00000500117.1:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1598,
          "referenceAllele": "G",
          "start": 1597
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000673312.1:c.1598G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500186.1:n.1598G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1602,
          "referenceAllele": "G",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000334961.11:c.1330G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335652.7:p.Glu444Ter",
        "hgvsWellDefined": "ENSP00000335652.7:p.Glu444_Ile507delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "G",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000338641.8:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344666.4:p.Glu527Ter",
        "hgvsWellDefined": "ENSP00000344666.4:p.Glu527_Leu595delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "G",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000353887.8:c.1330G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340626.4:p.Glu444Ter",
        "hgvsWellDefined": "ENSP00000340626.4:p.Glu444_Ile507delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "G",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.8:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.4:p.Glu527Ter",
        "hgvsWellDefined": "ENSP00000354529.4:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1838,
          "referenceAllele": "G",
          "start": 1837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361452.8:c.1456G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354897.4:p.Glu486Ter",
        "hgvsWellDefined": "ENSP00000354897.4:p.Glu486_Ile549delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1453,
          "referenceAllele": "G",
          "start": 1452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361676.8:c.1453G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355183.4:p.Glu485Ter",
        "hgvsWellDefined": "ENSP00000355183.4:p.Glu485_Ile548delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "G",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000397789.3:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380891.3:p.Glu527Ter",
        "hgvsWellDefined": "ENSP00000380891.3:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1903,
          "referenceAllele": "G",
          "start": 1902
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000403435.5:c.1492G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384029.1:p.Glu498Ter",
        "hgvsWellDefined": "ENSP00000384029.1:p.Glu498_Ile561delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000403999.7:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384797.3:p.Glu527Ter",
        "hgvsWellDefined": "ENSP00000384797.3:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 13308,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 13309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000413209.6:c.448-13309G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409921.2:n.448-13309G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 3120,
          "referenceAllele": "G",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 3119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000432151.5:c.*93+3120G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395885.1:n.*93+3120G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252720",
      "coordinates": [
        {
          "allele": "T",
          "end": 2022,
          "referenceAllele": "G",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_000268.3:c.1579G>T",
        "LRG_511t1:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000259.1:p.Glu527Ter",
        "hgvsWellDefined": "NP_000259.1:p.Glu527_Leu595delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252721",
      "coordinates": [
        {
          "allele": "T",
          "end": 2022,
          "referenceAllele": "G",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_016418.5:c.1579G>T",
        "LRG_511t2:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057502.2:p.Glu527Ter",
        "hgvsWellDefined": "NP_057502.2:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830393031",
      "coordinates": [
        {
          "allele": "T",
          "end": 2022,
          "referenceAllele": "G",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181825.2:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861546.1:p.Glu527Ter",
        "hgvsWellDefined": "NP_861546.1:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830394923",
      "coordinates": [
        {
          "allele": "T",
          "end": 1896,
          "referenceAllele": "G",
          "start": 1895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181828.2:c.1453G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861966.1:p.Glu485Ter",
        "hgvsWellDefined": "NP_861966.1:p.Glu485_Ile548delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830397603",
      "coordinates": [
        {
          "allele": "T",
          "end": 1899,
          "referenceAllele": "G",
          "start": 1898
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181829.2:c.1456G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861967.1:p.Glu486Ter",
        "hgvsWellDefined": "NP_861967.1:p.Glu486_Ile549delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830399676",
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "G",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181830.2:c.1330G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861968.1:p.Glu444Ter",
        "hgvsWellDefined": "NP_861968.1:p.Glu444_Ile507delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830402231",
      "coordinates": [
        {
          "allele": "T",
          "end": 1773,
          "referenceAllele": "G",
          "start": 1772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181831.2:c.1330G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861969.1:p.Glu444Ter",
        "hgvsWellDefined": "NP_861969.1:p.Glu444_Ile507delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916078854",
      "coordinates": [
        {
          "allele": "T",
          "end": 2022,
          "referenceAllele": "G",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181832.2:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861970.1:p.Glu527Ter",
        "hgvsWellDefined": "NP_861970.1:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 13308,
          "referenceAllele": "G",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 13309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181833.2:c.448-13309G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861971.1:n.448-13309G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2138,
          "referenceAllele": "G",
          "start": 2137
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NR_156186.1:n.2138G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "XM_017028809.2:c.1465G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884298.1:p.Glu489Ter",
        "hgvsWellDefined": "XP_016884298.1:p.Glu489_Leu557delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1581,
          "referenceAllele": "G",
          "start": 1580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "XM_017028810.1:c.1465G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884299.1:p.Glu489Ter",
        "hgvsWellDefined": "XP_016884299.1:p.Glu489_Ile552delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252720",
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_000268.4:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000259.1:p.Glu527Ter",
        "hgvsWellDefined": "NP_000259.1:p.Glu527_Leu595delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674769",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338641.10:c.1579G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000268.4:c.1579G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344666.5:p.Glu527Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000259.1:p.Glu527Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830393031",
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181825.3:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861546.1:p.Glu527Ter",
        "hgvsWellDefined": "NP_861546.1:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830394923",
      "coordinates": [
        {
          "allele": "T",
          "end": 1819,
          "referenceAllele": "G",
          "start": 1818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181828.3:c.1453G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861966.1:p.Glu485Ter",
        "hgvsWellDefined": "NP_861966.1:p.Glu485_Ile548delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830397603",
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "G",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181829.3:c.1456G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861967.1:p.Glu486Ter",
        "hgvsWellDefined": "NP_861967.1:p.Glu486_Ile549delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830399676",
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "G",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181830.3:c.1330G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861968.1:p.Glu444Ter",
        "hgvsWellDefined": "NP_861968.1:p.Glu444_Ile507delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830402231",
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "G",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181831.3:c.1330G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861969.1:p.Glu444Ter",
        "hgvsWellDefined": "NP_861969.1:p.Glu444_Ile507delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916078854",
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "G",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181832.3:c.1579G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861970.1:p.Glu527Ter",
        "hgvsWellDefined": "NP_861970.1:p.Glu527_Ile590delinsTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2061,
          "referenceAllele": "G",
          "start": 2060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NR_156186.2:n.2061G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 13308,
          "referenceAllele": "G",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 13309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181833.3:c.448-13309G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861971.1:n.448-13309G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729746"
    }
  ],
  "type": "nucleotide"
}