{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7130741",
  "communityStandardTitle": [
    "NM_001099274.3(TINF2):c.186G>A (p.Lys62=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2414096[alleleid]",
        "alleleId": 2414096,
        "preferredName": "NM_001099274.3(TINF2):c.186G>A (p.Lys62=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2437095",
        "RCV": [
          "RCV003141015"
        ],
        "variationId": 2437095
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-24711353-C-T",
        "id": "14-24711353-C-T",
        "variant": "14:24711353 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24711353C>T?assembly=hg19",
        "id": "chr14:g.24711353C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24242147C>T?assembly=hg38",
        "id": "chr14:g.24242147C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750655470",
        "rs": 750655470
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24711353-C-T?dataset=gnomad_r2_1",
        "id": "14-24711353-C-T",
        "variant": "14:24711353 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24242147-C-T?dataset=gnomad_r3",
        "id": "14-24242147-C-T",
        "variant": "14:24242147 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-24242147-C-T?dataset=gnomad_r4",
        "id": "14-24242147-C-T",
        "variant": "14:24242147 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 24242147,
          "referenceAllele": "C",
          "start": 24242146
        }
      ],
      "hgvs": [
        "NC_000014.9:g.24242147C>T",
        "CM000676.2:g.24242147C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 24711353,
          "referenceAllele": "C",
          "start": 24711352
        }
      ],
      "hgvs": [
        "NC_000014.8:g.24711353C>T",
        "CM000676.1:g.24711353C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 23781193,
          "referenceAllele": "C",
          "start": 23781192
        }
      ],
      "hgvs": [
        "NC_000014.7:g.23781193C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5528,
          "referenceAllele": "G",
          "start": 5527
        }
      ],
      "hgvs": [
        "NG_016650.1:g.5528G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003248"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557915.2:n.489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "referenceAllele": "G",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.3:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.3:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699682.1:n.489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 480,
          "referenceAllele": "G",
          "start": 479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699683.1:n.480G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910558"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 482,
          "referenceAllele": "G",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699684.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514523.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910559"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 449,
          "referenceAllele": "G",
          "start": 448
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699685.1:n.449G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910560"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 213,
          "referenceAllele": "G",
          "start": 212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699686.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514524.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910561"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 332,
          "referenceAllele": "G",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699687.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514525.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910562"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "G",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699688.1:n.348G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910563"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 483,
          "referenceAllele": "G",
          "start": 482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699689.1:n.483G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910564"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699690.1:n.489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699691.1:n.489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 200,
          "referenceAllele": "G",
          "start": 199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699693.1:n.200G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910568"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699694.1:n.442G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699695.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514526.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910570"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699696.1:n.489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699697.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514527.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699698.1:n.212G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 20,
          "referenceAllele": "G",
          "start": 19
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699699.1:n.20G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699700.1:n.489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699701.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514528.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.12:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742990",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.186G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.186G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Lys62="
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Lys62="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 261,
          "referenceAllele": "G",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.2:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.2:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760223"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 459,
          "referenceAllele": "G",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000646753.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494065.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769050"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.11:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251989"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 517,
          "referenceAllele": "G",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000399423.8:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382350.4:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 412,
          "referenceAllele": "G",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373413"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 209,
          "endIntronDirection": "-",
          "endIntronOffset": 152,
          "referenceAllele": "G",
          "start": 209,
          "startIntronDirection": "-",
          "startIntronOffset": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558476.5:c.-246-153G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452724.1:n.-246-153G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 489,
          "referenceAllele": "G",
          "start": 488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558510.1:n.489G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373854"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558566.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453025.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373903"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 486,
          "referenceAllele": "G",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559019.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453675.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374244"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 196,
          "referenceAllele": "G",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559147.1:n.196G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374351"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 142,
          "referenceAllele": "G",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559969.5:c.142G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374996"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000626689.2:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486681.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535623",
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829706517",
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.2:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032610"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267528.2:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267585.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065447"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 881,
          "referenceAllele": "G",
          "start": 880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267529.2:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267586.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065448"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_011536642.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534944.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS103627"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535623",
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.2:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828101964",
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.1:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829706517",
      "coordinates": [
        {
          "allele": "A",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.3:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525519"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 500,
          "referenceAllele": "G",
          "start": 499
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_011536642.2:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534944.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 481,
          "referenceAllele": "G",
          "start": 480
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021216.2:c.-45G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876705.1:n.-45G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572480"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825535623",
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.3:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.186G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.186G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Lys62="
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Lys62="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828101964",
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "referenceAllele": "G",
          "start": 476
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.2:c.186G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Lys62="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690732"
    }
  ],
  "type": "nucleotide"
}