{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8745313",
  "communityStandardTitle": [
    "NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=402506[alleleid]",
        "alleleId": 402506,
        "preferredName": "NM_023036.6(DNAI2):c.317A>T (p.Tyr106Phe)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/408965",
        "RCV": [
          "RCV000458143",
          "RCV001127062"
        ],
        "variationId": 408965
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-72281312-A-T",
        "id": "17-72281312-A-T",
        "variant": "17:72281312 A / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.72281312A>T?assembly=hg19",
        "id": "chr17:g.72281312A>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.74285173A>T?assembly=hg38",
        "id": "chr17:g.74285173A>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/761389658",
        "rs": 761389658
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-72281312-A-T?dataset=gnomad_r2_1",
        "id": "17-72281312-A-T",
        "variant": "17:72281312 A / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74285173-A-T?dataset=gnomad_r3",
        "id": "17-74285173-A-T",
        "variant": "17:74285173 A / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-74285173-A-T?dataset=gnomad_r4",
        "id": "17-74285173-A-T",
        "variant": "17:74285173 A / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 74285173,
          "referenceAllele": "A",
          "start": 74285172
        }
      ],
      "hgvs": [
        "NC_000017.11:g.74285173A>T",
        "CM000679.2:g.74285173A>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 72281312,
          "referenceAllele": "A",
          "start": 72281311
        }
      ],
      "hgvs": [
        "NC_000017.10:g.72281312A>T",
        "CM000679.1:g.72281312A>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 69792907,
          "referenceAllele": "A",
          "start": 69792906
        }
      ],
      "hgvs": [
        "NC_000017.9:g.69792907A>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15927,
          "referenceAllele": "A",
          "start": 15926
        }
      ],
      "hgvs": [
        "NG_016865.1:g.15927A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000311014.11:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308312.6:p.Tyr106Phe",
        "hgvsWellDefined": "ENSP00000308312.6:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.317A>T"
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.317A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Tyr106Phe"
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Tyr106Phe"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 384,
          "referenceAllele": "A",
          "start": 383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000311014.10:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308312.6:p.Tyr106Phe",
        "hgvsWellDefined": "ENSP00000308312.6:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "A",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000446837.2:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400252.2:p.Tyr106Phe",
        "hgvsWellDefined": "ENSP00000400252.2:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 418,
          "referenceAllele": "A",
          "start": 417
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000579055.5:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462767.1:p.Tyr106Phe",
        "hgvsWellDefined": "ENSP00000462767.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385662"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "A",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000579490.5:c.488A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464197.1:p.Tyr163Phe",
        "hgvsWellDefined": "ENSP00000464197.1:p.Tyr163Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000582036.5:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461950.1:p.Tyr106Phe",
        "hgvsWellDefined": "ENSP00000461950.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826081575",
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "A",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Tyr106Phe",
        "hgvsWellDefined": "NP_001166281.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469951",
      "coordinates": [
        {
          "allele": "T",
          "end": 427,
          "referenceAllele": "A",
          "start": 426
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.4:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Tyr106Phe",
        "hgvsWellDefined": "NP_075462.3:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037548"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_011525125.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523427.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_011523427.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092244"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "A",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_429915.2:n.439A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "A",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_429916.2:n.439A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934518.1:n.441A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129827"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 438,
          "referenceAllele": "A",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934519.1:n.438A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934520.1:n.514A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129829"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "referenceAllele": "A",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934521.1:n.426A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "A",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934522.1:n.414A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129831"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 423,
          "referenceAllele": "A",
          "start": 422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934523.1:n.423A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934524.1:n.441A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934525.1:n.441A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129834"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934526.1:n.441A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129835"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "A",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934527.1:n.439A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "A",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934528.1:n.439A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934529.1:n.442A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "A",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934530.1:n.515A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934531.1:n.441A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826081575",
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "A",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.2:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Tyr106Phe",
        "hgvsWellDefined": "NP_001166281.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712013",
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "A",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Tyr106Phe",
        "hgvsWellDefined": "NP_001340096.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469951",
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "A",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.5:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Tyr106Phe",
        "hgvsWellDefined": "NP_075462.3:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526119"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 464,
          "referenceAllele": "A",
          "start": 463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.1:n.464A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_011525125.2:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523427.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_011523427.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 441,
          "referenceAllele": "A",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450874.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306642.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306642.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "A",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450875.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306643.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306643.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 409,
          "referenceAllele": "A",
          "start": 408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450876.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306644.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306644.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 414,
          "referenceAllele": "A",
          "start": 413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450877.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306645.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306645.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 394,
          "referenceAllele": "A",
          "start": 393
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450878.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306646.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306646.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450879.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306647.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306647.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450880.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306648.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306648.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 444,
          "referenceAllele": "A",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450881.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306649.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306649.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450882.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306650.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306650.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450883.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306651.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306651.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 442,
          "referenceAllele": "A",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450884.1:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306652.1:p.Tyr106Phe",
        "hgvsWellDefined": "XP_024306652.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "referenceAllele": "A",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450885.1:c.10A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306653.1:p.Thr4Ser",
        "hgvsWellDefined": "XP_024306653.1:p.Thr4Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "referenceAllele": "A",
          "start": 517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450886.1:c.10A>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306654.1:p.Thr4Ser",
        "hgvsWellDefined": "XP_024306654.1:p.Thr4Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645469951",
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.6:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Tyr106Phe",
        "hgvsWellDefined": "NP_075462.3:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.317A>T"
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.317A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Tyr106Phe"
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Tyr106Phe"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826081575",
      "coordinates": [
        {
          "allele": "T",
          "end": 437,
          "referenceAllele": "A",
          "start": 436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.3:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Tyr106Phe",
        "hgvsWellDefined": "NP_001166281.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712013",
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.2:c.317A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Tyr106Phe",
        "hgvsWellDefined": "NP_001340096.1:p.Tyr106Phe"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "A",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.2:n.440A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704721"
    }
  ],
  "type": "nucleotide"
}