{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399805800",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2031801[alleleid]",
        "alleleId": 2031801,
        "preferredName": "NM_000419.5(ITGA2B):c.522C>A (p.Tyr174Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1966635",
        "RCV": [
          "RCV002716720"
        ],
        "variationId": 1966635
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42462971G>T?assembly=hg19",
        "id": "chr17:g.42462971G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44385603G>T?assembly=hg38",
        "id": "chr17:g.44385603G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2048640591",
        "rs": 2048640591
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44385603,
          "referenceAllele": "G",
          "start": 44385602
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44385603G>T",
        "CM000679.2:g.44385603G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42462971,
          "referenceAllele": "G",
          "start": 42462970
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42462971G>T",
        "CM000679.1:g.42462971G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39818497,
          "referenceAllele": "G",
          "start": 39818496
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39818497G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8903,
          "referenceAllele": "C",
          "start": 8902
        }
      ],
      "hgvs": [
        "NG_008331.1:g.8903C>A",
        "LRG_479:g.8903C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Tyr174Ter",
        "hgvsWellDefined": "ENSP00000262407.5:p.Tyr174_Glu1039delinsSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.522C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.522C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Tyr174Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Tyr174Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Tyr174Ter",
        "hgvsWellDefined": "ENSP00000262407.5:p.Tyr174_Glu1039delinsSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 207,
          "referenceAllele": "C",
          "start": 206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000592944.1:n.207C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580111747",
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.522C>A",
        "LRG_479t1:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Tyr174Ter",
        "hgvsWellDefined": "NP_000410.2:p.Tyr174_Glu1039delinsSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:p.Tyr174Ter",
        "hgvsWellDefined": "XP_011523051.1:p.Tyr174_Glu1005delinsSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 554,
          "referenceAllele": "C",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:p.Tyr174Ter",
        "hgvsWellDefined": "XP_011523052.1:p.Tyr174_Glu1000delinsSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580111747",
      "coordinates": [
        {
          "allele": "A",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Tyr174Ter",
        "hgvsWellDefined": "NP_000410.2:p.Tyr174_Glu1039delinsSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580111747",
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "referenceAllele": "C",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.522C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Tyr174Ter",
        "hgvsWellDefined": "NP_000410.2:p.Tyr174_Glu1039delinsSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.522C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.522C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Tyr174Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Tyr174Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}