{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399806384",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983901[alleleid]",
        "alleleId": 983901,
        "preferredName": "NM_000419.5(ITGA2B):c.266G>A (p.Trp89Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/996185",
        "RCV": [
          "RCV001290479",
          "RCV002254212"
        ],
        "variationId": 996185
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42463422C>T?assembly=hg19",
        "id": "chr17:g.42463422C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44386054C>T?assembly=hg38",
        "id": "chr17:g.44386054C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2048646082",
        "rs": 2048646082
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44386054,
          "referenceAllele": "C",
          "start": 44386053
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44386054C>T",
        "CM000679.2:g.44386054C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42463422,
          "referenceAllele": "C",
          "start": 42463421
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42463422C>T",
        "CM000679.1:g.42463422C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39818948,
          "referenceAllele": "C",
          "start": 39818947
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39818948C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8452,
          "referenceAllele": "G",
          "start": 8451
        }
      ],
      "hgvs": [
        "NG_008331.1:g.8452G>A",
        "LRG_479:g.8452G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.266G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Trp89Ter",
        "hgvsWellDefined": "ENSP00000262407.5:p.Trp89_Glu1039delinsArgAlaGluGlyGlyGlnCysProSerLeuLeuPheAspLeuArgAspGluThrArgAsnValGlySerGlnThrLeuGlnThrPheLysAlaArgGlnGlyLeuGlyAlaSerValValSerTrpSerAspValIleValAlaCysAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.266G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.266G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Trp89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Trp89Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.266G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Trp89Ter",
        "hgvsWellDefined": "ENSP00000262407.5:p.Trp89_Glu1039delinsArgAlaGluGlyGlyGlnCysProSerLeuLeuPheAspLeuArgAspGluThrArgAsnValGlySerGlnThrLeuGlnThrPheLysAlaArgGlnGlyLeuGlyAlaSerValValSerTrpSerAspValIleValAlaCysAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232254",
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.266G>A",
        "LRG_479t1:c.266G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Trp89Ter",
        "hgvsWellDefined": "NP_000410.2:p.Trp89_Glu1039delinsArgAlaGluGlyGlyGlnCysProSerLeuLeuPheAspLeuArgAspGluThrArgAsnValGlySerGlnThrLeuGlnThrPheLysAlaArgGlnGlyLeuGlyAlaSerValValSerTrpSerAspValIleValAlaCysAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.266G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:p.Trp89Ter",
        "hgvsWellDefined": "XP_011523051.1:p.Trp89_Glu1005delinsArgAlaGluGlyGlyGlnCysProSerLeuLeuPheAspLeuArgAspGluThrArgAsnValGlySerGlnThrLeuGlnThrPheLysAlaArgGlnGlyLeuGlyAlaSerValValSerTrpSerAspValIleValAlaCysAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 298,
          "referenceAllele": "G",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.266G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:p.Trp89Ter",
        "hgvsWellDefined": "XP_011523052.1:p.Trp89_Glu1000delinsArgAlaGluGlyGlyGlnCysProSerLeuLeuPheAspLeuArgAspGluThrArgAsnValGlySerGlnThrLeuGlnThrPheLysAlaArgGlnGlyLeuGlyAlaSerValValSerTrpSerAspValIleValAlaCysAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232254",
      "coordinates": [
        {
          "allele": "A",
          "end": 394,
          "referenceAllele": "G",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.266G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Trp89Ter",
        "hgvsWellDefined": "NP_000410.2:p.Trp89_Glu1039delinsArgAlaGluGlyGlyGlnCysProSerLeuLeuPheAspLeuArgAspGluThrArgAsnValGlySerGlnThrLeuGlnThrPheLysAlaArgGlnGlyLeuGlyAlaSerValValSerTrpSerAspValIleValAlaCysAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499232254",
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.266G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Trp89Ter",
        "hgvsWellDefined": "NP_000410.2:p.Trp89_Glu1039delinsArgAlaGluGlyGlyGlnCysProSerLeuLeuPheAspLeuArgAspGluThrArgAsnValGlySerGlnThrLeuGlnThrPheLysAlaArgGlnGlyLeuGlyAlaSerValValSerTrpSerAspValIleValAlaCysAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.266G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.266G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Trp89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Trp89Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}