{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA399806043",
  "communityStandardTitle": [
    "NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=845495[alleleid]",
        "alleleId": 845495,
        "preferredName": "NM_000419.5(ITGA2B):c.414C>A (p.Cys138Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/854735",
        "RCV": [
          "RCV001059843"
        ],
        "variationId": 854735
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.42463079G>T?assembly=hg19",
        "id": "chr17:g.42463079G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.44385711G>T?assembly=hg38",
        "id": "chr17:g.44385711G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2048642260",
        "rs": 2048642260
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-44385711-G-T?dataset=gnomad_r4",
        "id": "17-44385711-G-T",
        "variant": "17:44385711 G / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 44385711,
          "referenceAllele": "G",
          "start": 44385710
        }
      ],
      "hgvs": [
        "NC_000017.11:g.44385711G>T",
        "CM000679.2:g.44385711G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 42463079,
          "referenceAllele": "G",
          "start": 42463078
        }
      ],
      "hgvs": [
        "NC_000017.10:g.42463079G>T",
        "CM000679.1:g.42463079G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 39818605,
          "referenceAllele": "G",
          "start": 39818604
        }
      ],
      "hgvs": [
        "NC_000017.9:g.39818605G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8795,
          "referenceAllele": "C",
          "start": 8794
        }
      ],
      "hgvs": [
        "NG_008331.1:g.8795C>A",
        "LRG_479:g.8795C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001032"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.6:c.414C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Cys138Ter",
        "hgvsWellDefined": "ENSP00000262407.5:p.Cys138_Glu1039delinsAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742335",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.414C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.414C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Cys138Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Cys138Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000262407.5:c.414C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262407.5:p.Cys138Ter",
        "hgvsWellDefined": "ENSP00000262407.5:p.Cys138_Glu1039delinsAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 99,
          "referenceAllele": "C",
          "start": 98
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "ENST00000592944.1:n.99C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS393907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139688202",
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.3:c.414C>A",
        "LRG_479t1:c.414C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Cys138Ter",
        "hgvsWellDefined": "NP_000410.2:p.Cys138_Glu1039delinsAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006481"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524749.1:c.414C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523051.1:p.Cys138Ter",
        "hgvsWellDefined": "XP_011523051.1:p.Cys138_Glu1005delinsAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091870"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 446,
          "referenceAllele": "C",
          "start": 445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "XM_011524750.1:c.414C>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523052.1:p.Cys138Ter",
        "hgvsWellDefined": "XP_011523052.1:p.Cys138_Glu1000delinsAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091871"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139688202",
      "coordinates": [
        {
          "allele": "A",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.4:c.414C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Cys138Ter",
        "hgvsWellDefined": "NP_000410.2:p.Cys138_Glu1039delinsAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510793"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139688202",
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006138",
      "geneNCBI_id": 3674,
      "geneSymbol": "ITGA2B",
      "hgvs": [
        "NM_000419.5:c.414C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000410.2:p.Cys138Ter",
        "hgvsWellDefined": "NP_000410.2:p.Cys138_Glu1039delinsAlaProTrpGlnHisTrpAsnValLeuGluLysThrGluGluAlaGluLysThrProValGlySerCysPheLeuAlaGlnProGluSerGlyArgArgAlaGluTyrSerProCysArgGlyAsnThrLeuSerArgIleTyrValGluAsnAspPheSerTrpAspLysArgTyrCysGluAlaGlyPheSerSerValValThrGlnAlaGlyGluLeuValLeuGlyAlaProGlyGlyTyrTyrPheLeuGlyLeuLeuAlaGlnAlaProValAlaAspIlePheSerSerTyrArgProGlyIleLeuLeuTrpHisValSerSerGlnSerLeuSerPheAspSerSerAsnProGluTyrPheAspGlyTyrTrpGlyTyrSerValAlaValGlyGluPheAspGlyAspLeuAsnThrThrGluTyrValValGlyAlaProThrTrpSerTrpThrLeuGlyAlaValGluIleLeuAspSerTyrTyrGlnArgLeuHisArgLeuArgGlyGluGlnMetAlaSerTyrPheGlyHisSerValAlaValThrAspValAsnGlyAspGlyArgHisAspLeuLeuValGlyAlaProLeuTyrMetGluSerArgAlaAspArgLysLeuAlaGluValGlyArgValTyrLeuPheLeuGlnProArgGlyProHisAlaLeuGlyAlaProSerLeuLeuLeuThrGlyThrGlnLeuTyrGlyArgPheGlySerAlaIleAlaProLeuGlyAspLeuAspArgAspGlyTyrAsnAspIleAlaValAlaAlaProTyrGlyGlyProSerGlyArgGlyGlnValLeuValPheLeuGlyGlnSerGluGlyLeuArgSerArgProSerGlnValLeuAspSerProPheProThrGlySerAlaPheGlyPheSerLeuArgGlyAlaValAspIleAspAspAsnGlyTyrProAspLeuIleValGlyAlaTyrGlyAlaAsnGlnValAlaValTyrArgAlaGlnProValValLysAlaSerValGlnLeuLeuValGlnAspSerLeuAsnProAlaValLysSerCysValLeuProGlnThrLysThrProValSerCysPheAsnIleGlnMetCysValGlyAlaThrGlyHisAsnIleProGlnLysLeuSerLeuAsnAlaGluLeuGlnLeuAspArgGlnLysProArgGlnGlyArgArgValLeuLeuLeuGlySerGlnGlnAlaGlyThrThrLeuAsnLeuAspLeuGlyGlyLysHisSerProIleCysHisThrThrMetAlaPheLeuArgAspGluAlaAspPheArgAspLysLeuSerProIleValLeuSerLeuAsnValSerLeuProProThrGluAlaGlyMetAlaProAlaValValLeuHisGlyAspThrHisValGlnGluGlnThrArgIleValLeuAspCysGlyGluAspAspValCysValProGlnLeuGlnLeuThrAlaSerValThrGlySerProLeuLeuValGlyAlaAspAsnValLeuGluLeuGlnMetAspAlaAlaAsnGluGlyGluGlyAlaTyrGluAlaGluLeuAlaValHisLeuProGlnGlyAlaHisTyrMetArgAlaLeuSerAsnValGluGlyPheGluArgLeuIleCysAsnGlnLysLysGluAsnGluThrArgValValLeuCysGluLeuGlyAsnProMetLysLysAsnAlaGlnIleGlyIleAlaMetLeuValSerValGlyAsnLeuGluGluAlaGlyGluSerValSerPheGlnLeuGlnIleArgSerLysAsnSerGlnAsnProAsnSerLysIleValLeuLeuAspValProValArgAlaGluAlaGlnValGluLeuArgGlyAsnSerPheProAlaSerLeuValValAlaAlaGluGluGlyGluArgGluGlnAsnSerLeuAspSerTrpGlyProLysValGluHisThrTyrGluLeuHisAsnAsnGlyProGlyThrValAsnGlyLeuHisLeuSerIleHisLeuProGlyGlnSerGlnProSerAspLeuLeuTyrIleLeuAspIleGlnProGlnGlyGlyLeuGlnCysPheProGlnProProValAsnProLeuLysValAspTrpGlyLeuProIleProSerProSerProIleHisProAlaHisHisLysArgAspArgArgGlnIlePheLeuProGluProGluGlnProSerArgLeuGlnAspProValLeuValSerCysAspSerAlaProCysThrValValGlnCysAspLeuGlnGluMetAlaArgGlyGlnArgAlaMetValThrValLeuAlaPheLeuTrpLeuProSerLeuTyrGlnArgProLeuAspGlnPheValLeuGlnSerHisAlaTrpPheAsnValSerSerLeuProTyrAlaValProProLeuSerLeuProArgGlyGluAlaGlnValTrpThrGlnLeuLeuArgAlaLeuGluGluArgAlaIleProIleTrpTrpValLeuValGlyValLeuGlyGlyLeuLeuLeuLeuThrIleLeuValLeuAlaMetTrpLysValGlyPhePheLysArgAsnArgProProLeuGluGluAspAspGluGluGlyGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674840",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262407.6:c.414C>A"
          },
          "RefSeq": {
            "hgvs": "NM_000419.5:c.414C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262407.5:p.Cys138Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000410.2:p.Cys138Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}