{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA343193",
  "communityStandardTitle": [
    "NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=47530[alleleid]",
        "alleleId": 47530,
        "preferredName": "NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/38927",
        "RCV": [
          "RCV000032178"
        ],
        "variationId": 38927
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24709815T>C?assembly=hg19",
        "id": "chr14:g.24709815T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.24240609T>C?assembly=hg38",
        "id": "chr14:g.24240609T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199422319",
        "rs": 199422319
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 24240609,
          "referenceAllele": "T",
          "start": 24240608
        }
      ],
      "hgvs": [
        "NC_000014.9:g.24240609T>C",
        "CM000676.2:g.24240609T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 24709815,
          "referenceAllele": "T",
          "start": 24709814
        }
      ],
      "hgvs": [
        "NC_000014.8:g.24709815T>C",
        "CM000676.1:g.24709815T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "C",
          "end": 23779655,
          "referenceAllele": "T",
          "start": 23779654
        }
      ],
      "hgvs": [
        "NC_000014.7:g.23779655T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7066,
          "referenceAllele": "A",
          "start": 7065
        }
      ],
      "hgvs": [
        "NG_016650.1:g.7066A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003248"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 13193,
          "referenceAllele": "T",
          "start": 13192
        }
      ],
      "hgvs": [
        "NG_054634.1:g.13193T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617480"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "A",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557915.2:n.1174A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS905892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "A",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.3:c.763A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.3:p.Arg255Gly",
        "hgvsWellDefined": "ENSP00000453157.3:p.Arg255Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS905893"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1261,
          "referenceAllele": "A",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699682.1:n.1261A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1311,
          "referenceAllele": "A",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699683.1:n.1311A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910558"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1177,
          "referenceAllele": "A",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699684.1:c.*464A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514523.1:n.*464A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1075,
          "referenceAllele": "A",
          "start": 1074
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699685.1:n.1075A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910560"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "referenceAllele": "A",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699686.1:c.664A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514524.1:p.Arg222Gly",
        "hgvsWellDefined": "ENSP00000514524.1:p.Arg222Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910561"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 912,
          "referenceAllele": "A",
          "start": 911
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699687.1:c.766A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514525.1:p.Arg256Gly",
        "hgvsWellDefined": "ENSP00000514525.1:p.Arg256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910562"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1071,
          "referenceAllele": "A",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699688.1:n.1071A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910563"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1427,
          "referenceAllele": "A",
          "start": 1426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699689.1:n.1427A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910564"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1624,
          "referenceAllele": "A",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699690.1:n.1624A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910565"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1768,
          "referenceAllele": "A",
          "start": 1767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699691.1:n.1768A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910566"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1288,
          "referenceAllele": "A",
          "start": 1287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699693.1:n.1288A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1530,
          "referenceAllele": "A",
          "start": 1529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699694.1:n.1530A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 834,
          "referenceAllele": "A",
          "start": 833
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699695.1:c.*243A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514526.1:n.*243A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "A",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699696.1:n.1174A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1174,
          "referenceAllele": "A",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699697.1:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514527.1:p.Arg291Gly",
        "hgvsWellDefined": "ENSP00000514527.1:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 792,
          "referenceAllele": "A",
          "start": 791
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699698.1:n.792A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1195,
          "referenceAllele": "A",
          "start": 1194
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699699.1:n.1195A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1318,
          "referenceAllele": "A",
          "start": 1317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699700.1:n.1318A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1088,
          "referenceAllele": "A",
          "start": 1087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000699701.1:c.*251A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514528.1:n.*251A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1162,
          "referenceAllele": "A",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.12:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Arg291Gly",
        "hgvsWellDefined": "ENSP00000267415.7:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742990",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.871A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.871A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Arg291Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Arg291Gly"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 838,
          "referenceAllele": "A",
          "start": 837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000557921.2:c.763A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453157.2:p.Arg255Gly",
        "hgvsWellDefined": "ENSP00000453157.2:p.Arg255Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1039,
          "referenceAllele": "A",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000646753.1:c.766A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494065.1:p.Arg256Gly",
        "hgvsWellDefined": "ENSP00000494065.1:p.Arg256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "referenceAllele": "A",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000267415.11:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267415.7:p.Arg291Gly",
        "hgvsWellDefined": "ENSP00000267415.7:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1202,
          "referenceAllele": "A",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000399423.8:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000382350.4:p.Arg291Gly",
        "hgvsWellDefined": "ENSP00000382350.4:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 888,
          "referenceAllele": "A",
          "start": 887
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558476.5:c.433A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452724.1:p.Arg145Gly",
        "hgvsWellDefined": "ENSP00000452724.1:p.Arg145Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 947,
          "referenceAllele": "A",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000558566.1:c.*243A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453025.1:n.*243A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373903"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 759,
          "referenceAllele": "A",
          "start": 758
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559019.1:c.*243A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000453675.1:n.*243A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS374244"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "referenceAllele": "A",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559549.1:n.597A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 757,
          "endIntronDirection": "+",
          "endIntronOffset": 70,
          "referenceAllele": "A",
          "start": 757,
          "startIntronDirection": "+",
          "startIntronOffset": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000559969.5:c.757+70A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS374996"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1008,
          "referenceAllele": "A",
          "start": 1007
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "ENST00000626689.2:c.*243A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486681.1:n.*243A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406771"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343194",
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "referenceAllele": "A",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.1:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Arg291Gly",
        "hgvsWellDefined": "NP_001092744.1:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010716"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493159",
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "referenceAllele": "A",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.2:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:p.Arg291Gly",
        "hgvsWellDefined": "NP_036593.2:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "referenceAllele": "A",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267528.2:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267585.1:p.Arg291Gly",
        "hgvsWellDefined": "XP_005267585.1:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1461,
          "referenceAllele": "A",
          "start": 1460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_005267529.2:c.766A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267586.1:p.Arg256Gly",
        "hgvsWellDefined": "XP_005267586.1:p.Arg256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065448"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343194",
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "referenceAllele": "A",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.2:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Arg291Gly",
        "hgvsWellDefined": "NP_001092744.1:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102087",
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "A",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.1:c.766A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Arg256Gly",
        "hgvsWellDefined": "NP_001350597.1:p.Arg256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523463"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645493159",
      "coordinates": [
        {
          "allele": "G",
          "end": 1213,
          "referenceAllele": "A",
          "start": 1212
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_012461.3:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_036593.2:p.Arg291Gly",
        "hgvsWellDefined": "NP_036593.2:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525519"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1108,
          "referenceAllele": "A",
          "start": 1107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_011536642.2:c.*251A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011534944.1:n.*251A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 754,
          "referenceAllele": "A",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021216.2:c.229A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876705.1:p.Arg77Gly",
        "hgvsWellDefined": "XP_016876705.1:p.Arg77Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572480"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 337,
          "referenceAllele": "A",
          "start": 336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "XM_017021217.1:c.229A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876706.1:p.Arg77Gly",
        "hgvsWellDefined": "XP_016876706.1:p.Arg77Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572481"
    },
    {
      "@id": "http://reg.genome.network/allele/PA343194",
      "coordinates": [
        {
          "allele": "G",
          "end": 1162,
          "referenceAllele": "A",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001099274.3:c.871A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001092744.1:p.Arg291Gly",
        "hgvsWellDefined": "NP_001092744.1:p.Arg291Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663407",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267415.12:c.871A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001099274.3:c.871A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267415.7:p.Arg291Gly"
          },
          "RefSeq": {
            "hgvs": "NP_001092744.1:p.Arg291Gly"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828102087",
      "coordinates": [
        {
          "allele": "G",
          "end": 1057,
          "referenceAllele": "A",
          "start": 1056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011824",
      "geneNCBI_id": 26277,
      "geneSymbol": "TINF2",
      "hgvs": [
        "NM_001363668.2:c.766A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350597.1:p.Arg256Gly",
        "hgvsWellDefined": "NP_001350597.1:p.Arg256Gly"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690732"
    }
  ],
  "type": "nucleotide"
}