{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA355492561",
  "communityStandardTitle": [
    "NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1679569[alleleid]",
        "alleleId": 1679569,
        "preferredName": "NM_000340.2(SLC2A2):c.351G>A (p.Trp117Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1687276",
        "RCV": [
          "RCV002250958"
        ],
        "variationId": 1687276
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.170732278C>T?assembly=hg19",
        "id": "chr3:g.170732278C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.171014489C>T?assembly=hg38",
        "id": "chr3:g.171014489C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/753980727",
        "rs": 753980727
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 171014489,
          "referenceAllele": "C",
          "start": 171014488
        }
      ],
      "hgvs": [
        "NC_000003.12:g.171014489C>T",
        "CM000665.2:g.171014489C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 170732278,
          "referenceAllele": "C",
          "start": 170732277
        }
      ],
      "hgvs": [
        "NC_000003.11:g.170732278C>T",
        "CM000665.1:g.170732278C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 172214972,
          "referenceAllele": "C",
          "start": 172214971
        }
      ],
      "hgvs": [
        "NC_000003.10:g.172214972C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 17491,
          "referenceAllele": "G",
          "start": 17490
        }
      ],
      "hgvs": [
        "NG_008108.1:g.17491G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.8:c.351G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:p.Trp117Ter",
        "hgvsWellDefined": "ENSP00000323568.3:p.Trp117_Val524delinsLeuGlyAspThrLeuGlyArgIleLysAlaMetLeuValAlaAsnIleLeuSerLeuValGlyAlaLeuLeuMetGlyPheSerLysLeuGlyProSerHisIleLeuIleIleAlaGlyArgSerIleSerGlyLeuTyrCysGlyLeuIleSerGlyLeuValProMetTyrIleGlyGluIleAlaProThrAlaLeuArgGlyAlaLeuGlyThrPheHisGlnLeuAlaIleValThrGlyIleLeuIleSerGlnIleIleGlyLeuGluPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.351G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.351G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Trp117Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Trp117Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 431,
          "referenceAllele": "G",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.7:c.351G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:p.Trp117Ter",
        "hgvsWellDefined": "ENSP00000323568.3:p.Trp117_Val524delinsLeuGlyAspThrLeuGlyArgIleLysAlaMetLeuValAlaAsnIleLeuSerLeuValGlyAlaLeuLeuMetGlyPheSerLysLeuGlyProSerHisIleLeuIleIleAlaGlyArgSerIleSerGlyLeuTyrCysGlyLeuIleSerGlyLeuValProMetTyrIleGlyGluIleAlaProThrAlaLeuArgGlyAlaLeuGlyThrPheHisGlnLeuAlaIleValThrGlyIleLeuIleSerGlnIleIleGlyLeuGluPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256927"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 4042,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000461867.1:c.-24+4042G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418888.1:n.-24+4042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS306279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 181,
          "endIntronDirection": "+",
          "endIntronOffset": 4042,
          "referenceAllele": "G",
          "start": 181,
          "startIntronDirection": "+",
          "startIntronOffset": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000469787.1:c.108+4042G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417918.1:n.108+4042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312381"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000497642.5:c.351G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418456.1:p.Trp117Ter",
        "hgvsWellDefined": "ENSP00000418456.1:p.Trp117_Arg135delinsLeuGlyAspThrLeuGlyArgAlaAsnPheArgProGlySerTyrValTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573165863",
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.1:c.351G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Trp117Ter",
        "hgvsWellDefined": "NP_000331.1:p.Trp117_Val524delinsLeuGlyAspThrLeuGlyArgIleLysAlaMetLeuValAlaAsnIleLeuSerLeuValGlyAlaLeuLeuMetGlyPheSerLysLeuGlyProSerHisIleLeuIleIleAlaGlyArgSerIleSerGlyLeuTyrCysGlyLeuIleSerGlyLeuValProMetTyrIleGlyGluIleAlaProThrAlaLeuArgGlyAlaLeuGlyThrPheHisGlnLeuAlaIleValThrGlyIleLeuIleSerGlnIleIleGlyLeuGluPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006403"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "endIntronDirection": "+",
          "endIntronOffset": 4042,
          "referenceAllele": "G",
          "start": 417,
          "startIntronDirection": "+",
          "startIntronOffset": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.1:c.14+4042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:n.14+4042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 660,
          "referenceAllele": "G",
          "start": 659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.1:c.-44G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:n.-44G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.1:c.306G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Trp102Ter",
        "hgvsWellDefined": "XP_011511389.1:p.Trp102_Val509delinsLeuGlyAspThrLeuGlyArgIleLysAlaMetLeuValAlaAsnIleLeuSerLeuValGlyAlaLeuLeuMetGlyPheSerLysLeuGlyProSerHisIleLeuIleIleAlaGlyArgSerIleSerGlyLeuTyrCysGlyLeuIleSerGlyLeuValProMetTyrIleGlyGluIleAlaProThrAlaLeuArgGlyAlaLeuGlyThrPheHisGlnLeuAlaIleValThrGlyIleLeuIleSerGlnIleIleGlyLeuGluPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080342"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 262,
          "referenceAllele": "G",
          "start": 261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513088.1:c.132G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511390.1:p.Trp44Ter",
        "hgvsWellDefined": "XP_011511390.1:p.Trp44_Val451delinsLeuGlyAspThrLeuGlyArgIleLysAlaMetLeuValAlaAsnIleLeuSerLeuValGlyAlaLeuLeuMetGlyPheSerLysLeuGlyProSerHisIleLeuIleIleAlaGlyArgSerIleSerGlyLeuTyrCysGlyLeuIleSerGlyLeuValProMetTyrIleGlyGluIleAlaProThrAlaLeuArgGlyAlaLeuGlyThrPheHisGlnLeuAlaIleValThrGlyIleLeuIleSerGlnIleIleGlyLeuGluPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080343"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 93,
          "endIntronDirection": "+",
          "endIntronOffset": 4042,
          "referenceAllele": "G",
          "start": 93,
          "startIntronDirection": "+",
          "startIntronOffset": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513089.1:c.-24+4042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511391.1:n.-24+4042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080344"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 407,
          "referenceAllele": "G",
          "start": 406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.2:c.306G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Trp102Ter",
        "hgvsWellDefined": "XP_011511389.1:p.Trp102_Val509delinsLeuGlyAspThrLeuGlyArgIleLysAlaMetLeuValAlaAsnIleLeuSerLeuValGlyAlaLeuLeuMetGlyPheSerLysLeuGlyProSerHisIleLeuIleIleAlaGlyArgSerIleSerGlyLeuTyrCysGlyLeuIleSerGlyLeuValProMetTyrIleGlyGluIleAlaProThrAlaLeuArgGlyAlaLeuGlyThrPheHisGlnLeuAlaIleValThrGlyIleLeuIleSerGlnIleIleGlyLeuGluPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542777"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 159,
          "endIntronDirection": "+",
          "endIntronOffset": 4042,
          "referenceAllele": "G",
          "start": 159,
          "startIntronDirection": "+",
          "startIntronOffset": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_024453720.1:c.-24+4042G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309488.1:n.-24+4042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573165863",
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.2:c.351G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Trp117Ter",
        "hgvsWellDefined": "NP_000331.1:p.Trp117_Val524delinsLeuGlyAspThrLeuGlyArgIleLysAlaMetLeuValAlaAsnIleLeuSerLeuValGlyAlaLeuLeuMetGlyPheSerLysLeuGlyProSerHisIleLeuIleIleAlaGlyArgSerIleSerGlyLeuTyrCysGlyLeuIleSerGlyLeuValProMetTyrIleGlyGluIleAlaProThrAlaLeuArgGlyAlaLeuGlyThrPheHisGlnLeuAlaIleValThrGlyIleLeuIleSerGlnIleIleGlyLeuGluPheIleLeuGlyAsnTyrAspLeuTrpHisIleLeuLeuGlyLeuSerGlyValArgAlaIleLeuGlnSerLeuLeuLeuPhePheCysProGluSerProArgTyrLeuTyrIleLysLeuAspGluGluValLysAlaLysGlnSerLeuLysArgLeuArgGlyTyrAspAspValThrLysAspIleAsnGluMetArgLysGluArgGluGluAlaSerSerGluGlnLysValSerIleIleGlnLeuPheThrAsnSerSerTyrArgGlnProIleLeuValAlaLeuMetLeuHisValAlaGlnGlnPheSerGlyIleAsnGlyIlePheTyrTyrSerThrSerIlePheGlnThrAlaGlyIleSerLysProValTyrAlaThrIleGlyValGlyAlaValAsnMetValPheThrAlaValSerValPheLeuValGluLysAlaGlyArgArgSerLeuPheLeuIleGlyMetSerGlyMetPheValCysAlaIlePheMetSerValGlyLeuValLeuLeuAsnLysPheSerTrpMetSerTyrValSerMetIleAlaIlePheLeuPheValSerPhePheGluIleGlyProGlyProIleProTrpPheMetValAlaGluPhePheSerGlnGlyProArgProAlaAlaLeuAlaIleAlaAlaPheSerAsnTrpThrCysAsnPheIleValAlaLeuCysPheGlnTyrIleAlaAspPheCysGlyProTyrValPhePheLeuPheAlaGlyValLeuLeuAlaPheThrLeuPheThrPhePheLysValProGluThrLysGlyLysSerPheGluGluIleAlaAlaGluPheGlnLysLysSerGlySerAlaHisArgProLysAlaAlaValGluMetLysPheLeuGlyAlaThrGluThrValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.351G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.351G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Trp117Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Trp117Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 158,
          "endIntronDirection": "+",
          "endIntronOffset": 4042,
          "referenceAllele": "G",
          "start": 158,
          "startIntronDirection": "+",
          "startIntronOffset": 4041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.2:c.14+4042G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:n.14+4042G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.2:c.-44G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:n.-44G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681540"
    }
  ],
  "type": "nucleotide"
}