{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA413265487",
  "communityStandardTitle": [
    "NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2740127[alleleid]",
        "alleleId": 2740127,
        "preferredName": "NM_177433.3(MAGED2):c.262C>T (p.Gln88Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2575215",
        "RCV": [
          "RCV003320417"
        ],
        "variationId": 2575215
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.54836371C>T?assembly=hg19",
        "id": "chrX:g.54836371C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.54809938C>T?assembly=hg38",
        "id": "chrX:g.54809938C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1432384861",
        "rs": 1432384861
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 54809938,
          "referenceAllele": "C",
          "start": 54809937
        }
      ],
      "hgvs": [
        "NC_000023.11:g.54809938C>T",
        "CM000685.2:g.54809938C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 54836371,
          "referenceAllele": "C",
          "start": 54836370
        }
      ],
      "hgvs": [
        "NC_000023.10:g.54836371C>T",
        "CM000685.1:g.54836371C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 54853096,
          "referenceAllele": "C",
          "start": 54853095
        }
      ],
      "hgvs": [
        "NC_000023.9:g.54853096C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7201,
          "referenceAllele": "C",
          "start": 7200
        }
      ],
      "hgvs": [
        "NG_012844.1:g.7201C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002577"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000375068.6:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364209.1:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000364209.1:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751547",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375068.6:c.262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_177433.3:c.262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364209.1:p.Gln88Ter"
          },
          "RefSeq": {
            "hgvs": "NP_803182.1:p.Gln88Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000218439.8:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000218439.4:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000218439.4:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 293,
          "referenceAllele": "C",
          "start": 292
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000347546.8:c.208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000336962.4:p.Gln70Ter",
        "hgvsWellDefined": "ENSP00000336962.4:p.Gln70_Lys588delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000375053.6:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364193.2:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000364193.2:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "C",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000375058.5:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364198.1:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000364198.1:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270541"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000375060.5:c.148C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364200.1:p.Gln50Ter",
        "hgvsWellDefined": "ENSP00000364200.1:p.Gln50_Lys521delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000375068.5:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000364209.1:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000364209.1:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000396224.1:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379526.1:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000379526.1:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277166"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122,
          "endIntronDirection": "-",
          "endIntronOffset": 179,
          "referenceAllele": "C",
          "start": 122,
          "startIntronDirection": "-",
          "startIntronOffset": 180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000463787.5:n.123-180C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "referenceAllele": "C",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000485483.1:n.497C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 405,
          "referenceAllele": "C",
          "start": 404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000497484.1:n.405C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS333711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "ENST00000627068.2:c.148C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486563.1:p.Gln50Ter",
        "hgvsWellDefined": "ENSP00000486563.1:p.Gln50_Lys521delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406837"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829756952",
      "coordinates": [
        {
          "allele": "T",
          "end": 387,
          "referenceAllele": "C",
          "start": 386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_014599.5:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055414.2:p.Gln88Ter",
        "hgvsWellDefined": "NP_055414.2:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830362141",
      "coordinates": [
        {
          "allele": "T",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_177433.2:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_803182.1:p.Gln88Ter",
        "hgvsWellDefined": "NP_803182.1:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742033915",
      "coordinates": [
        {
          "allele": "T",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_201222.2:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_957516.1:p.Gln88Ter",
        "hgvsWellDefined": "NP_957516.1:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044975"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830362141",
      "coordinates": [
        {
          "allele": "T",
          "end": 349,
          "referenceAllele": "C",
          "start": 348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_177433.3:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_803182.1:p.Gln88Ter",
        "hgvsWellDefined": "NP_803182.1:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375068.6:c.262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_177433.3:c.262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364209.1:p.Gln88Ter"
          },
          "RefSeq": {
            "hgvs": "NP_803182.1:p.Gln88Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829756952",
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "referenceAllele": "C",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_014599.6:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055414.2:p.Gln88Ter",
        "hgvsWellDefined": "NP_055414.2:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2742033915",
      "coordinates": [
        {
          "allele": "T",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_201222.3:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_957516.1:p.Gln88Ter",
        "hgvsWellDefined": "NP_957516.1:p.Gln88_Lys606delinsLeuThrAspThrGlnValLeuAlaAlaGluAsnLysSerLeuAlaAlaAspThrLysLysGlnAsnAlaAspProGlnAlaValThrMetProAlaThrGluThrLysLysValSerHisValAlaAspThrLysValAsnThrLysAlaGlnGluThrGluAlaAlaProSerGlnAlaProAlaAspGluProGluProGluSerAlaAlaAlaGlnSerGlnGluAsnGlnAspThrArgProLysValLysAlaLysLysAlaArgLysValLysHisLeuAspGlyGluGluAspGlySerSerAspGlnSerGlnAlaSerGlyThrThrGlyGlyArgArgValSerLysAlaLeuMetAlaSerMetAlaArgArgAlaSerArgGlyProIleAlaPheTrpAlaArgArgAlaSerArgThrArgLeuAlaAlaTrpAlaArgArgAlaLeuLeuSerLeuArgSerProLysAlaArgArgGlyLysAlaArgArgArgAlaAlaLysLeuGlnSerSerGlnGluProGluAlaProProProArgAspValAlaLeuLeuGlnGlyArgAlaAsnAspLeuValLysTyrLeuLeuAlaLysAspGlnThrLysIleProIleLysArgSerAspMetLeuLysAspIleIleLysGluTyrThrAspValTyrProGluIleIleGluArgAlaGlyTyrSerLeuGluLysValPheGlyIleGlnLeuLysGluIleAspLysAsnAspHisLeuTyrIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701518"
    }
  ],
  "type": "nucleotide"
}