{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354408555",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.161C>A (p.Ser54Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1173950[alleleid]",
        "alleleId": 1173950,
        "preferredName": "NM_032638.5(GATA2):c.161C>A (p.Ser54Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1184167",
        "RCV": [
          "RCV001542131"
        ],
        "variationId": 1184167
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128205714G>T?assembly=hg19",
        "id": "chr3:g.128205714G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128486871G>T?assembly=hg38",
        "id": "chr3:g.128486871G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2107673501",
        "rs": 2107673501
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128486871,
          "referenceAllele": "G",
          "start": 128486870
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128486871G>T",
        "CM000665.2:g.128486871G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 128205714,
          "referenceAllele": "G",
          "start": 128205713
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128205714G>T",
        "CM000665.1:g.128205714G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 129688404,
          "referenceAllele": "G",
          "start": 129688403
        }
      ],
      "hgvs": [
        "NC_000003.10:g.129688404G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11317,
          "referenceAllele": "C",
          "start": 11316
        }
      ],
      "hgvs": [
        "NG_029334.1:g.11317C>A",
        "LRG_295:g.11317C>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.6:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000417074.1:p.Ser54_Gly480delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.161C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.161C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Ser54Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Ser54Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 924,
          "referenceAllele": "C",
          "start": 923
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696466.1:c.443C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512647.1:p.Ser148Ter",
        "hgvsWellDefined": "ENSP00000512647.1:p.Ser148_Gly574delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907918"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696652.1:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512781.1:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000512781.1:p.Ser54Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908098"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "C",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696653.1:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512782.1:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000512782.1:p.Ser54Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908099"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1047,
          "referenceAllele": "C",
          "start": 1046
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696654.1:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512783.1:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000512783.1:p.Ser54Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908100"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696661.1:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512787.1:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000512787.1:p.Ser54Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.7:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000345681.2:p.Ser54_Gly480delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.161C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.161C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Ser54Ter"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Ser54Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.6:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000345681.2:p.Ser54_Gly480delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000430265.6:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400259.2:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000400259.2:p.Ser54_Gly466delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.5:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000417074.1:p.Ser54_Gly480delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 555,
          "referenceAllele": "C",
          "start": 554
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000492608.1:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418132.1:p.Ser54Ter",
        "hgvsWellDefined": "ENSP00000418132.1:p.Ser54_Gly150del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS329954"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896480",
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.1:c.161C>A",
        "LRG_295t1:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Ser54Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Ser54_Gly480delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897465",
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "referenceAllele": "C",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:p.Ser54Ter",
        "hgvsWellDefined": "NP_001139134.1:p.Ser54_Gly466delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293790",
      "coordinates": [
        {
          "allele": "A",
          "end": 495,
          "referenceAllele": "C",
          "start": 494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.161C>A",
        "LRG_295t2:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Ser54Ter",
        "hgvsWellDefined": "NP_116027.2:p.Ser54_Gly480delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825896480",
      "coordinates": [
        {
          "allele": "A",
          "end": 596,
          "referenceAllele": "C",
          "start": 595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Ser54Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Ser54_Gly480delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.161C>A"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.161C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Ser54Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Ser54Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499293790",
      "coordinates": [
        {
          "allele": "A",
          "end": 509,
          "referenceAllele": "C",
          "start": 508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.161C>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Ser54Ter",
        "hgvsWellDefined": "NP_116027.2:p.Ser54_Gly480delinsGlnGlyAsnProTyrTyrAlaAsnProAlaHisAlaArgAlaArgValSerTyrSerProAlaHisAlaArgLeuThrGlyGlyGlnMetCysArgProHisLeuLeuHisSerProGlyLeuProTrpLeuAspGlyGlyLysAlaAlaLeuSerAlaAlaAlaAlaHisHisHisAsnProTrpThrValSerProPheSerLysThrProLeuHisProSerAlaAlaGlyGlyProGlyGlyProLeuSerValTyrProGlyAlaGlyGlyGlySerGlyGlyGlySerGlySerSerValAlaSerLeuThrProThrAlaAlaHisSerGlySerHisLeuPheGlyPheProProThrProProLysGluValSerProAspProSerThrThrGlyAlaAlaSerProAlaSerSerSerAlaGlyGlySerAlaAlaArgGlyGluAspLysAspGlyValLysTyrGlnValSerLeuThrGluSerMetLysMetGluSerGlySerProLeuArgProGlyLeuAlaThrMetGlyThrGlnProAlaThrHisHisProIleProThrTyrProSerTyrValProAlaAlaAlaHisAspTyrSerSerGlyLeuPheHisProGlyGlyPheLeuGlyGlyProAlaSerSerPheThrProLysGlnArgSerLysAlaArgSerCysSerGluGlyArgGluCysValAsnCysGlyAlaThrAlaThrProLeuTrpArgArgAspGlyThrGlyHisTyrLeuCysAsnAlaCysGlyLeuTyrHisLysMetAsnGlyGlnAsnArgProLeuIleLysProLysArgArgLeuSerAlaAlaArgArgAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.161C>A"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.161C>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Ser54Ter"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Ser54Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}