{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA354413698",
  "communityStandardTitle": [
    "NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=789281[alleleid]",
        "alleleId": 789281,
        "preferredName": "NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/800674",
        "RCV": [
          "RCV000984817",
          "RCV001062521"
        ],
        "variationId": 800674
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128200778T>A?assembly=hg19",
        "id": "chr3:g.128200778T>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.128481935T>A?assembly=hg38",
        "id": "chr3:g.128481935T>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1313081073",
        "rs": 1313081073
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 128481935,
          "referenceAllele": "T",
          "start": 128481934
        }
      ],
      "hgvs": [
        "NC_000003.12:g.128481935T>A",
        "CM000665.2:g.128481935T>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 128200778,
          "referenceAllele": "T",
          "start": 128200777
        }
      ],
      "hgvs": [
        "NC_000003.11:g.128200778T>A",
        "CM000665.1:g.128200778T>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 129683468,
          "referenceAllele": "T",
          "start": 129683467
        }
      ],
      "hgvs": [
        "NC_000003.10:g.129683468T>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16253,
          "referenceAllele": "A",
          "start": 16252
        }
      ],
      "hgvs": [
        "NG_029334.1:g.16253A>T",
        "LRG_295:g.16253A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS004348"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "A",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.6:c.1027A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Arg343Ter",
        "hgvsWellDefined": "ENSP00000417074.1:p.Arg344_Gly480delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914150",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.1027A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.1027A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Arg343Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Arg343Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1790,
          "referenceAllele": "A",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696466.1:c.1309A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512647.1:p.Arg437Ter",
        "hgvsWellDefined": "ENSP00000512647.1:p.Arg438_Gly574delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10,
          "referenceAllele": "A",
          "start": 9
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000696672.1:c.10A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512796.1:p.Arg4Ter",
        "hgvsWellDefined": "ENSP00000512796.1:p.Arg5_Leu192delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnAlaThrAspHisGluGluGlyArgAspProAspSerGluProGluAspValGlnGlnValGlnGluGluGlnGluArgGlyGlyValLeuArgGlyAlaValLysValHisAlaGlyGluValIleProLeuGlnCysSerCysProGlyTrpThrHisGlyThrCysGlyProProProAlaLeuGlnProLeuArgThrHisProAlaHisSerAspAlaHisProProLeuLeuGlnProLeuLeuArgProProProProValGlnHisGlyAspArgHisGlyLeuGlyAsnArgTrpThrSerArgThrGlyHisSerArgAspGlyTrpThrLysProLeuAlaAlaGlnHisPheProLysAlaAspThrThrProAlaSerProAlaArgProSerThrProSerProGlyGlyArgProAlaAlaCysGlnGlnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "A",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.7:c.1027A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Arg343Ter",
        "hgvsWellDefined": "ENSP00000345681.2:p.Arg344_Gly480delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747961",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.1027A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.1027A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Arg343Ter"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Arg343Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "referenceAllele": "A",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000341105.6:c.1027A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345681.2:p.Arg343Ter",
        "hgvsWellDefined": "ENSP00000345681.2:p.Arg344_Gly480delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261253"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1268,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "A",
          "start": 1268,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000430265.6:c.1018-33A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400259.2:n.1018-33A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "A",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000487848.5:c.1027A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417074.1:p.Arg343Ter",
        "hgvsWellDefined": "ENSP00000417074.1:p.Arg344_Gly480delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 144,
          "referenceAllele": "A",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "ENST00000489987.1:n.144A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327927"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897059",
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "A",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.1:c.1027A>T",
        "LRG_295t1:c.1027A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Arg343Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Arg344_Gly480delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1273,
          "endIntronDirection": "-",
          "endIntronOffset": 32,
          "referenceAllele": "A",
          "start": 1273,
          "startIntronDirection": "-",
          "startIntronOffset": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145662.1:c.1018-33A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139134.1:n.1018-33A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013725"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916071361",
      "coordinates": [
        {
          "allele": "T",
          "end": 1361,
          "referenceAllele": "A",
          "start": 1360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.4:c.1027A>T",
        "LRG_295t2:c.1027A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Arg343Ter",
        "hgvsWellDefined": "NP_116027.2:p.Arg344_Gly480delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039235"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825897059",
      "coordinates": [
        {
          "allele": "T",
          "end": 1462,
          "referenceAllele": "A",
          "start": 1461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_001145661.2:c.1027A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001139133.1:p.Arg343Ter",
        "hgvsWellDefined": "NP_001139133.1:p.Arg344_Gly480delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000487848.6:c.1027A>T"
          },
          "RefSeq": {
            "hgvs": "NM_001145661.2:c.1027A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417074.1:p.Arg343Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001139133.1:p.Arg343Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916071361",
      "coordinates": [
        {
          "allele": "T",
          "end": 1375,
          "referenceAllele": "A",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004171",
      "geneNCBI_id": 2624,
      "geneSymbol": "GATA2",
      "hgvs": [
        "NM_032638.5:c.1027A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_116027.2:p.Arg343Ter",
        "hgvsWellDefined": "NP_116027.2:p.Arg344_Gly480delinsAlaGlyThrCysCysAlaAsnCysGlnThrThrThrThrThrLeuTrpArgArgAsnAlaAsnGlyAspProValCysAsnAlaCysGlyLeuTyrTyrLysLeuHisAsnValAsnArgProLeuThrMetLysLysGluGlyIleGlnThrArgAsnArgLysMetSerAsnLysSerLysLysSerLysLysGlyAlaGluCysPheGluGluLeuSerLysCysMetGlnGluLysSerSerProPheSerAlaAlaAlaLeuAlaGlyHisMetAlaProValGlyHisLeuProProPheSerHisSerGlyHisIleLeuProThrProThrProIleHisProSerSerSerLeuSerPheGlyHisProHisProSerSerMetValThrAlaMetGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699163",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341105.7:c.1027A>T"
          },
          "RefSeq": {
            "hgvs": "NM_032638.5:c.1027A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345681.2:p.Arg343Ter"
          },
          "RefSeq": {
            "hgvs": "NP_116027.2:p.Arg343Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}