{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA019988",
  "communityStandardTitle": [
    "NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31143[alleleid]",
        "alleleId": 31143,
        "preferredName": "NM_000340.2(SLC2A2):c.1166T>C (p.Leu389Pro)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16104",
        "RCV": [
          "RCV000017484"
        ],
        "variationId": 16104
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.170716858A>G?assembly=hg19",
        "id": "chr3:g.170716858A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.170999069A>G?assembly=hg38",
        "id": "chr3:g.170999069A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/121909747",
        "rs": 121909747
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 170999069,
          "referenceAllele": "A",
          "start": 170999068
        }
      ],
      "hgvs": [
        "NC_000003.12:g.170999069A>G",
        "CM000665.2:g.170999069A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 170716858,
          "referenceAllele": "A",
          "start": 170716857
        }
      ],
      "hgvs": [
        "NC_000003.11:g.170716858A>G",
        "CM000665.1:g.170716858A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "G",
          "end": 172199552,
          "referenceAllele": "A",
          "start": 172199551
        }
      ],
      "hgvs": [
        "NC_000003.10:g.172199552A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 32911,
          "referenceAllele": "T",
          "start": 32910
        }
      ],
      "hgvs": [
        "NG_008108.1:g.32911T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000853"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1216,
          "referenceAllele": "T",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.8:c.1166T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:p.Leu389Pro",
        "hgvsWellDefined": "ENSP00000323568.3:p.Leu389Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745912",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.1166T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.1166T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Leu389Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Leu389Pro"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1246,
          "referenceAllele": "T",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000314251.7:c.1166T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000323568.3:p.Leu389Pro",
        "hgvsWellDefined": "ENSP00000323568.3:p.Leu389Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256927"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 976,
          "referenceAllele": "T",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000469787.1:c.*633T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417918.1:n.*633T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312381"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1091,
          "referenceAllele": "T",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "ENST00000497642.5:c.*633T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000418456.1:n.*633T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS333831"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093644",
      "coordinates": [
        {
          "allele": "C",
          "end": 1475,
          "referenceAllele": "T",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.1:c.1166T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Leu389Pro",
        "hgvsWellDefined": "NP_000331.1:p.Leu389Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006403"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611517",
      "coordinates": [
        {
          "allele": "C",
          "end": 1212,
          "referenceAllele": "T",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.1:c.809T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:p.Leu270Pro",
        "hgvsWellDefined": "NP_001265587.1:p.Leu270Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021447"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611618",
      "coordinates": [
        {
          "allele": "C",
          "end": 1350,
          "referenceAllele": "T",
          "start": 1349
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.1:c.647T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:p.Leu216Pro",
        "hgvsWellDefined": "NP_001265588.1:p.Leu216Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021448"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "T",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.1:c.1121T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Leu374Pro",
        "hgvsWellDefined": "XP_011511389.1:p.Leu374Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080342"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1077,
          "referenceAllele": "T",
          "start": 1076
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513088.1:c.947T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511390.1:p.Leu316Pro",
        "hgvsWellDefined": "XP_011511390.1:p.Leu316Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080343"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 763,
          "referenceAllele": "T",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513089.1:c.647T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511391.1:p.Leu216Pro",
        "hgvsWellDefined": "XP_011511391.1:p.Leu216Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080344"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1222,
          "referenceAllele": "T",
          "start": 1221
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_011513087.2:c.1121T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511389.1:p.Leu374Pro",
        "hgvsWellDefined": "XP_011511389.1:p.Leu374Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542777"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 829,
          "referenceAllele": "T",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "XM_024453720.1:c.647T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309488.1:p.Leu216Pro",
        "hgvsWellDefined": "XP_024309488.1:p.Leu216Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587095"
    },
    {
      "@id": "http://reg.genome.network/allele/PA093644",
      "coordinates": [
        {
          "allele": "C",
          "end": 1216,
          "referenceAllele": "T",
          "start": 1215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_000340.2:c.1166T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000331.1:p.Leu389Pro",
        "hgvsWellDefined": "NP_000331.1:p.Leu389Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000314251.8:c.1166T>C"
          },
          "RefSeq": {
            "hgvs": "NM_000340.2:c.1166T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000323568.3:p.Leu389Pro"
          },
          "RefSeq": {
            "hgvs": "NP_000331.1:p.Leu389Pro"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611517",
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "referenceAllele": "T",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278658.2:c.809T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265587.1:p.Leu270Pro",
        "hgvsWellDefined": "NP_001265587.1:p.Leu270Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826611618",
      "coordinates": [
        {
          "allele": "C",
          "end": 1091,
          "referenceAllele": "T",
          "start": 1090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011006",
      "geneNCBI_id": 6514,
      "geneSymbol": "SLC2A2",
      "hgvs": [
        "NM_001278659.2:c.647T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001265588.1:p.Leu216Pro",
        "hgvsWellDefined": "NP_001265588.1:p.Leu216Pro"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681540"
    }
  ],
  "type": "nucleotide"
}