{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10583924",
  "communityStandardTitle": [
    "NM_000268.4(NF2):c.1627A>T (p.Lys543Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=243701[alleleid]",
        "alleleId": 243701,
        "preferredName": "NM_000268.4(NF2):c.1627A>T (p.Lys543Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/237621",
        "RCV": [
          "RCV000232701",
          "RCV002399811"
        ],
        "variationId": 237621
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.30077480A>T?assembly=hg19",
        "id": "chr22:g.30077480A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29681491A>T?assembly=hg38",
        "id": "chr22:g.29681491A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878853925",
        "rs": 878853925
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 29681491,
          "referenceAllele": "A",
          "start": 29681490
        }
      ],
      "hgvs": [
        "NC_000022.11:g.29681491A>T",
        "CM000684.2:g.29681491A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 30077480,
          "referenceAllele": "A",
          "start": 30077479
        }
      ],
      "hgvs": [
        "NC_000022.10:g.30077480A>T",
        "CM000684.1:g.30077480A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "T",
          "end": 28407480,
          "referenceAllele": "A",
          "start": 28407479
        }
      ],
      "hgvs": [
        "NC_000022.9:g.28407480A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82936,
          "referenceAllele": "A",
          "start": 82935
        }
      ],
      "hgvs": [
        "NG_009057.1:g.82936A>T",
        "LRG_511:g.82936A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001399"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1858,
          "referenceAllele": "A",
          "start": 1857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.10:c.1492A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.6:p.Lys498Ter",
        "hgvsWellDefined": "ENSP00000354529.6:p.Lys498_Leu550delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2099,
          "referenceAllele": "A",
          "start": 2098
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000673312.2:c.*1121A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500186.2:n.*1121A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "A",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000338641.10:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344666.5:p.Lys543Ter",
        "hgvsWellDefined": "ENSP00000344666.5:p.Lys543_Leu595delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338641.10:c.1627A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000268.4:c.1627A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344666.5:p.Lys543Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000259.1:p.Lys543Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1045,
          "referenceAllele": "A",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.9:c.1045A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.5:p.Lys349Ter",
        "hgvsWellDefined": "ENSP00000354529.5:p.Lys349_Leu401delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2023,
          "referenceAllele": "A",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672461.1:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500919.1:p.Lys543Ter",
        "hgvsWellDefined": "ENSP00000500919.1:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2174,
          "referenceAllele": "A",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672805.1:c.*1509A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500295.1:n.*1509A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "A",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672896.1:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500117.1:p.Lys543Ter",
        "hgvsWellDefined": "ENSP00000500117.1:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773532"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "A",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000673312.1:c.1646A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500186.1:n.1646A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1650,
          "referenceAllele": "A",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000334961.11:c.1378A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000335652.7:p.Lys460Ter",
        "hgvsWellDefined": "ENSP00000335652.7:p.Lys460_Ile507delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2068,
          "referenceAllele": "A",
          "start": 2067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000338641.8:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344666.4:p.Lys543Ter",
        "hgvsWellDefined": "ENSP00000344666.4:p.Lys543_Leu595delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "A",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000353887.8:c.1378A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000340626.4:p.Lys460Ter",
        "hgvsWellDefined": "ENSP00000340626.4:p.Lys460_Ile507delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1627,
          "referenceAllele": "A",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361166.8:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354529.4:p.Lys543Ter",
        "hgvsWellDefined": "ENSP00000354529.4:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247287"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1886,
          "referenceAllele": "A",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361452.8:c.1504A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000354897.4:p.Lys502Ter",
        "hgvsWellDefined": "ENSP00000354897.4:p.Lys502_Ile549delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1501,
          "referenceAllele": "A",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361676.8:c.1501A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000355183.4:p.Lys501Ter",
        "hgvsWellDefined": "ENSP00000355183.4:p.Lys501_Ile548delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247194"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1627,
          "referenceAllele": "A",
          "start": 1626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000397789.3:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380891.3:p.Lys543Ter",
        "hgvsWellDefined": "ENSP00000380891.3:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247214"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "A",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000403435.5:c.1540A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384029.1:p.Lys514Ter",
        "hgvsWellDefined": "ENSP00000384029.1:p.Lys514_Ile561delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "A",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000403999.7:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384797.3:p.Lys543Ter",
        "hgvsWellDefined": "ENSP00000384797.3:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 13260,
          "referenceAllele": "A",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 13261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000413209.6:c.448-13261A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409921.2:n.448-13261A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247276"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 806,
          "endIntronDirection": "+",
          "endIntronOffset": 3168,
          "referenceAllele": "A",
          "start": 806,
          "startIntronDirection": "+",
          "startIntronOffset": 3167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000432151.5:c.*93+3168A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395885.1:n.*93+3168A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825135714",
      "coordinates": [
        {
          "allele": "T",
          "end": 2070,
          "referenceAllele": "A",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_000268.3:c.1627A>T",
        "LRG_511t1:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000259.1:p.Lys543Ter",
        "hgvsWellDefined": "NP_000259.1:p.Lys543_Leu595delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645386777",
      "coordinates": [
        {
          "allele": "T",
          "end": 2070,
          "referenceAllele": "A",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_016418.5:c.1627A>T",
        "LRG_511t2:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057502.2:p.Lys543Ter",
        "hgvsWellDefined": "NP_057502.2:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830393083",
      "coordinates": [
        {
          "allele": "T",
          "end": 2070,
          "referenceAllele": "A",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181825.2:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861546.1:p.Lys543Ter",
        "hgvsWellDefined": "NP_861546.1:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830395056",
      "coordinates": [
        {
          "allele": "T",
          "end": 1944,
          "referenceAllele": "A",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181828.2:c.1501A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861966.1:p.Lys501Ter",
        "hgvsWellDefined": "NP_861966.1:p.Lys501_Ile548delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830397661",
      "coordinates": [
        {
          "allele": "T",
          "end": 1947,
          "referenceAllele": "A",
          "start": 1946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181829.2:c.1504A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861967.1:p.Lys502Ter",
        "hgvsWellDefined": "NP_861967.1:p.Lys502_Ile549delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830399764",
      "coordinates": [
        {
          "allele": "T",
          "end": 1821,
          "referenceAllele": "A",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181830.2:c.1378A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861968.1:p.Lys460Ter",
        "hgvsWellDefined": "NP_861968.1:p.Lys460_Ile507delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830402350",
      "coordinates": [
        {
          "allele": "T",
          "end": 1821,
          "referenceAllele": "A",
          "start": 1820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181831.2:c.1378A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861969.1:p.Lys460Ter",
        "hgvsWellDefined": "NP_861969.1:p.Lys460_Ile507delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916078862",
      "coordinates": [
        {
          "allele": "T",
          "end": 2070,
          "referenceAllele": "A",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181832.2:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861970.1:p.Lys543Ter",
        "hgvsWellDefined": "NP_861970.1:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "endIntronDirection": "-",
          "endIntronOffset": 13260,
          "referenceAllele": "A",
          "start": 890,
          "startIntronDirection": "-",
          "startIntronOffset": 13261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181833.2:c.448-13261A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861971.1:n.448-13261A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2186,
          "referenceAllele": "A",
          "start": 2185
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NR_156186.1:n.2186A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1633,
          "referenceAllele": "A",
          "start": 1632
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "XM_017028809.2:c.1513A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884298.1:p.Lys505Ter",
        "hgvsWellDefined": "XP_016884298.1:p.Lys505_Leu557delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1629,
          "referenceAllele": "A",
          "start": 1628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "XM_017028810.1:c.1513A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884299.1:p.Lys505Ter",
        "hgvsWellDefined": "XP_016884299.1:p.Lys505_Ile552delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825135714",
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "A",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_000268.4:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000259.1:p.Lys543Ter",
        "hgvsWellDefined": "NP_000259.1:p.Lys543_Leu595delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674769",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338641.10:c.1627A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000268.4:c.1627A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344666.5:p.Lys543Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000259.1:p.Lys543Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830393083",
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "A",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181825.3:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861546.1:p.Lys543Ter",
        "hgvsWellDefined": "NP_861546.1:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830395056",
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "A",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181828.3:c.1501A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861966.1:p.Lys501Ter",
        "hgvsWellDefined": "NP_861966.1:p.Lys501_Ile548delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830397661",
      "coordinates": [
        {
          "allele": "T",
          "end": 1870,
          "referenceAllele": "A",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181829.3:c.1504A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861967.1:p.Lys502Ter",
        "hgvsWellDefined": "NP_861967.1:p.Lys502_Ile549delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830399764",
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "A",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181830.3:c.1378A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861968.1:p.Lys460Ter",
        "hgvsWellDefined": "NP_861968.1:p.Lys460_Ile507delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830402350",
      "coordinates": [
        {
          "allele": "T",
          "end": 1744,
          "referenceAllele": "A",
          "start": 1743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181831.3:c.1378A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861969.1:p.Lys460Ter",
        "hgvsWellDefined": "NP_861969.1:p.Lys460_Ile507delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916078862",
      "coordinates": [
        {
          "allele": "T",
          "end": 1993,
          "referenceAllele": "A",
          "start": 1992
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181832.3:c.1627A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861970.1:p.Lys543Ter",
        "hgvsWellDefined": "NP_861970.1:p.Lys543_Ile590delinsThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "A",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NR_156186.2:n.2109A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 813,
          "endIntronDirection": "-",
          "endIntronOffset": 13260,
          "referenceAllele": "A",
          "start": 813,
          "startIntronDirection": "-",
          "startIntronOffset": 13261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181833.3:c.448-13261A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_861971.1:n.448-13261A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729746"
    }
  ],
  "type": "nucleotide"
}