{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA020030",
  "communityStandardTitle": [
    "NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31142[alleleid]",
        "alleleId": 31142,
        "preferredName": "NM_000340.2(SLC2A2):c.859C>T (p.Gln287Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16103",
        "RCV": [
          "RCV000017483"
        ],
        "variationId": 16103
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.170723178G>A?assembly=hg19",
        "id": "chr3:g.170723178G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.171005389G>A?assembly=hg38",
        "id": "chr3:g.171005389G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909746",
        "rs": 121909746
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 171005389,
          "referenceAllele": "G",
          "start": 171005388
        }
      ],
      "hgvs": [
        "NC_000003.12:g.171005389G>A",
        "CM000665.2:g.171005389G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 170723178,
          "referenceAllele": "G",
          "start": 170723177
        }
      ],
      "hgvs": [
        "NC_000003.11:g.170723178G>A",
        "CM000665.1:g.170723178G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 172205872,
          "referenceAllele": "G",
          "start": 172205871
        }
      ],
      "hgvs": [
        "NC_000003.10:g.172205872G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 26591,
          "referenceAllele": "C",
          "start": 26590
        }
      ],
      "hgvs": [
        "NG_008108.1:g.26591C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.8:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:p.Gln287Ter",
        "hgvsWellDefined": "ENSP00000323568.3:p.Gln287_Val524delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.859C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.859C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Gln287Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Gln287Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.7:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:p.Gln287Ter",
        "hgvsWellDefined": "ENSP00000323568.3:p.Gln287_Val524delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000469787.1:c.*326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417918.1:n.*326C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312381"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000497642.5:c.*326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418456.1:n.*326C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126203",
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.1:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Gln287Ter",
        "hgvsWellDefined": "NP_000331.1:p.Gln287_Val524delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611486",
      "coordinates": [
        {
          "allele": "T",
          "end": 905,
          "referenceAllele": "C",
          "start": 904
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.1:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:p.Gln168Ter",
        "hgvsWellDefined": "NP_001265587.1:p.Gln168_Val405delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611587",
      "coordinates": [
        {
          "allele": "T",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:p.Gln114Ter",
        "hgvsWellDefined": "NP_001265588.1:p.Gln114_Val351delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021448"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.1:c.814C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Gln272Ter",
        "hgvsWellDefined": "XP_011511389.1:p.Gln272_Val509delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 770,
          "referenceAllele": "C",
          "start": 769
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513088.1:c.640C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511390.1:p.Gln214Ter",
        "hgvsWellDefined": "XP_011511390.1:p.Gln214_Val451delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080343"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 456,
          "referenceAllele": "C",
          "start": 455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513089.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511391.1:p.Gln114Ter",
        "hgvsWellDefined": "XP_011511391.1:p.Gln114_Val351delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 915,
          "referenceAllele": "C",
          "start": 914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.2:c.814C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Gln272Ter",
        "hgvsWellDefined": "XP_011511389.1:p.Gln272_Val509delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 522,
          "referenceAllele": "C",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_024453720.1:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309488.1:p.Gln114Ter",
        "hgvsWellDefined": "XP_024309488.1:p.Gln114_Val351delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA126203",
      "coordinates": [
        {
          "allele": "T",
          "end": 909,
          "referenceAllele": "C",
          "start": 908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.2:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Gln287Ter",
        "hgvsWellDefined": "NP_000331.1:p.Gln287_Val524delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.859C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.859C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Gln287Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Gln287Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611486",
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.2:c.502C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:p.Gln168Ter",
        "hgvsWellDefined": "NP_001265587.1:p.Gln168_Val405delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611587",
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.2:c.340C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:p.Gln114Ter",
        "hgvsWellDefined": "NP_001265588.1:p.Gln114_Val351delinsLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681540"
    }
  ],
  "type": "nucleotide"
}