{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA372627220",
  "communityStandardTitle": [
    "NM_001363118.2(SLC52A2):c.466C>G (p.Leu156Val)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1876270[alleleid]",
        "alleleId": 1876270,
        "preferredName": "NM_001363118.2(SLC52A2):c.466C>G (p.Leu156Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2144366",
        "RCV": [
          "RCV003053319"
        ],
        "variationId": 2144366
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.145583618C>G?assembly=hg19",
        "id": "chr8:g.145583618C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.144359958C>G?assembly=hg38",
        "id": "chr8:g.144359958C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1554853980",
        "rs": 1554853980
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-145583618-C-G?dataset=gnomad_r2_1",
        "id": "8-145583618-C-G",
        "variant": "8:145583618 C / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144359958-C-G?dataset=gnomad_r3",
        "id": "8-144359958-C-G",
        "variant": "8:144359958 C / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-144359958-C-G?dataset=gnomad_r4",
        "id": "8-144359958-C-G",
        "variant": "8:144359958 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 144359958,
          "referenceAllele": "C",
          "start": 144359957
        }
      ],
      "hgvs": [
        "NC_000008.11:g.144359958C>G",
        "CM000670.2:g.144359958C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 145583618,
          "referenceAllele": "C",
          "start": 145583617
        }
      ],
      "hgvs": [
        "NC_000008.10:g.145583618C>G",
        "CM000670.1:g.145583618C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 145554426,
          "referenceAllele": "C",
          "start": 145554425
        }
      ],
      "hgvs": [
        "NC_000008.9:g.145554426C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6402,
          "referenceAllele": "C",
          "start": 6401
        }
      ],
      "hgvs": [
        "NG_032872.1:g.6402C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005247"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6402,
          "referenceAllele": "C",
          "start": 6401
        }
      ],
      "hgvs": [
        "NG_032872.2:g.6402C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673872"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000329994.7:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333638.2:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000333638.2:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747032"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 274,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000526338.7:c.131-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433583.3:n.131-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 257,
          "endIntronDirection": "+",
          "endIntronOffset": 535,
          "referenceAllele": "C",
          "start": 257,
          "startIntronDirection": "+",
          "startIntronOffset": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000526752.3:c.130+535C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433796.1:n.130+535C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000526779.3:c.255+211C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436917.1:n.255+211C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758984"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000526891.2:c.202C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502670.1:p.Leu68Val",
        "hgvsWellDefined": "ENSP00000502670.1:p.Leu68Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000527078.6:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434728.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000434728.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758999"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 975,
          "referenceAllele": "C",
          "start": 974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000532815.2:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501933.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000501933.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759308"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1165,
          "referenceAllele": "C",
          "start": 1164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000533662.2:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502274.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000502274.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1043,
          "referenceAllele": "C",
          "start": 1042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000534725.6:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431965.2:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000431965.2:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759413"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000643944.2:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496184.2:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000496184.2:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767557",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643944.2:c.466C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001363118.2:c.466C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496184.2:p.Leu156Val"
          },
          "RefSeq": {
            "hgvs": "NP_001350047.1:p.Leu156Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 340,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "C",
          "start": 340,
          "startIntronDirection": "-",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000674779.1:c.235-214C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501929.1:n.235-214C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 670,
          "referenceAllele": "C",
          "start": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000674821.1:c.*270C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502219.1:n.*270C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "C",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000674870.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502406.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000502406.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774767"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 698,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 698,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000674929.1:c.131-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501554.1:n.131-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774815"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000675121.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501993.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000501993.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 750,
          "referenceAllele": "C",
          "start": 749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000675280.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502796.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000502796.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775120"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 970,
          "referenceAllele": "C",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000675292.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502652.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000502652.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 700,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 700,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000675597.1:c.131-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501973.1:n.131-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 572,
          "referenceAllele": "C",
          "start": 571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000675787.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502189.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000502189.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 731,
          "referenceAllele": "C",
          "start": 730
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000675888.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502294.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000502294.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 18,
          "referenceAllele": "C",
          "start": 17
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000675998.1:n.18C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775741"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 236,
          "endIntronDirection": "-",
          "endIntronOffset": 213,
          "referenceAllele": "C",
          "start": 236,
          "startIntronDirection": "-",
          "startIntronOffset": 214
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000676094.1:c.131-214C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502066.1:n.131-214C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000676358.1:c.256-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501821.1:n.256-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 767,
          "referenceAllele": "C",
          "start": 766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000329994.6:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000333638.2:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000333638.2:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259165"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000402965.5:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385961.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000385961.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 274,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 274,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000526338.5:c.131-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433583.1:n.131-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352224"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 241,
          "endIntronDirection": "+",
          "endIntronOffset": 535,
          "referenceAllele": "C",
          "start": 241,
          "startIntronDirection": "+",
          "startIntronOffset": 534
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000526752.1:c.130+535C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433796.1:n.130+535C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 419,
          "endIntronDirection": "+",
          "endIntronOffset": 211,
          "referenceAllele": "C",
          "start": 419,
          "startIntronDirection": "+",
          "startIntronOffset": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000526779.1:c.255+211C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436917.1:n.255+211C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000526891.1:n.549C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS352688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000527078.5:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434728.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000434728.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS352843"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000530047.5:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435820.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000435820.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000532887.5:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436768.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000436768.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357738"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "ENST00000534725.5:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431965.1:p.Leu156Val",
        "hgvsWellDefined": "ENSP00000431965.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359290"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826361740",
      "coordinates": [
        {
          "allele": "G",
          "end": 650,
          "referenceAllele": "C",
          "start": 649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001253815.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240744.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001240744.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018967"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826362136",
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001253816.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240745.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001240745.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018968"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830008445",
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_024531.4:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078807.1:p.Leu156Val",
        "hgvsWellDefined": "NP_078807.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NR_045600.1:n.958C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051358"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "XM_006716658.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716721.1:p.Leu156Val",
        "hgvsWellDefined": "XP_006716721.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071778"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "XM_006716659.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716722.1:p.Leu156Val",
        "hgvsWellDefined": "XP_006716722.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071779"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "XM_006716660.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716723.1:p.Leu156Val",
        "hgvsWellDefined": "XP_006716723.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 418,
          "referenceAllele": "C",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "XM_011517300.1:c.202C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515602.1:p.Leu68Val",
        "hgvsWellDefined": "XP_011515602.1:p.Leu68Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828076208",
      "coordinates": [
        {
          "allele": "G",
          "end": 1065,
          "referenceAllele": "C",
          "start": 1064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363118.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350047.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001350047.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828076614",
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "C",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363120.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350049.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001350049.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828077020",
      "coordinates": [
        {
          "allele": "G",
          "end": 1061,
          "referenceAllele": "C",
          "start": 1060
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363121.1:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350050.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001350050.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 408,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 408,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363122.1:c.131-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350051.1:n.131-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 421,
          "referenceAllele": "C",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "XM_011517300.2:c.202C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515602.1:p.Leu68Val",
        "hgvsWellDefined": "XP_011515602.1:p.Leu68Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 725,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "XM_017013821.1:c.131-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869310.1:n.131-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566971"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 304,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 304,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "XM_017013822.1:c.131-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869311.1:n.131-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826361740",
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "C",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001253815.2:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240744.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001240744.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826362136",
      "coordinates": [
        {
          "allele": "G",
          "end": 635,
          "referenceAllele": "C",
          "start": 634
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001253816.2:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240745.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001240745.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828076208",
      "coordinates": [
        {
          "allele": "G",
          "end": 1029,
          "referenceAllele": "C",
          "start": 1028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363118.2:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350047.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001350047.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643944.2:c.466C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001363118.2:c.466C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496184.2:p.Leu156Val"
          },
          "RefSeq": {
            "hgvs": "NP_001350047.1:p.Leu156Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828076614",
      "coordinates": [
        {
          "allele": "G",
          "end": 864,
          "referenceAllele": "C",
          "start": 863
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363120.2:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350049.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001350049.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828077020",
      "coordinates": [
        {
          "allele": "G",
          "end": 1025,
          "referenceAllele": "C",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363121.2:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350050.1:p.Leu156Val",
        "hgvsWellDefined": "NP_001350050.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690611"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 411,
          "endIntronDirection": "-",
          "endIntronOffset": 156,
          "referenceAllele": "C",
          "start": 411,
          "startIntronDirection": "-",
          "startIntronOffset": 157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363122.2:c.131-157C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350051.1:n.131-157C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830008445",
      "coordinates": [
        {
          "allele": "G",
          "end": 747,
          "referenceAllele": "C",
          "start": 746
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_024531.5:c.466C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_078807.1:p.Leu156Val",
        "hgvsWellDefined": "NP_078807.1:p.Leu156Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "referenceAllele": "C",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NR_045600.2:n.926C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702375"
    }
  ],
  "type": "nucleotide"
}