{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7516595",
  "communityStandardTitle": [
    "NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=109543",
        "active": true,
        "id": "COSM109543"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=82782[alleleid]",
        "alleleId": 82782,
        "preferredName": "NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/71891",
        "RCV": [
          "RCV000516940",
          "RCV001119904",
          "RCV002054917",
          "RCV003905032"
        ],
        "variationId": 71891
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/15-43038399-C-T",
        "id": "15-43038399-C-T",
        "variant": "15:43038399 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.43038399C>T?assembly=hg19",
        "id": "chr15:g.43038399C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.42746201C>T?assembly=hg38",
        "id": "chr15:g.42746201C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146279300",
        "rs": 146279300
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-43038399-C-T?dataset=gnomad_r2_1",
        "id": "15-43038399-C-T",
        "variant": "15:43038399 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42746201-C-T?dataset=gnomad_r3",
        "id": "15-42746201-C-T",
        "variant": "15:42746201 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-42746201-C-T?dataset=gnomad_r4",
        "id": "15-42746201-C-T",
        "variant": "15:42746201 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 42746201,
          "referenceAllele": "C",
          "start": 42746200
        }
      ],
      "hgvs": [
        "NC_000015.10:g.42746201C>T",
        "CM000677.2:g.42746201C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 43038399,
          "referenceAllele": "C",
          "start": 43038398
        }
      ],
      "hgvs": [
        "NC_000015.9:g.43038399C>T",
        "CM000677.1:g.43038399C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "T",
          "end": 40825691,
          "referenceAllele": "C",
          "start": 40825690
        }
      ],
      "hgvs": [
        "NC_000015.8:g.40825691C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 179609,
          "referenceAllele": "G",
          "start": 179608
        }
      ],
      "hgvs": [
        "NG_012664.1:g.179609G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002512"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3737,
          "referenceAllele": "G",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000267890.11:c.3329G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267890.6:p.Arg1110His",
        "hgvsWellDefined": "ENSP00000267890.6:p.Arg1110His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267890.11:c.3329G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173500.4:c.3329G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267890.6:p.Arg1110His"
          },
          "RefSeq": {
            "hgvs": "NP_775771.3:p.Arg1110His"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3438,
          "referenceAllele": "G",
          "start": 3437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000267890.10:c.3329G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000267890.6:p.Arg1110His",
        "hgvsWellDefined": "ENSP00000267890.6:p.Arg1110His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 5042,
          "referenceAllele": "G",
          "start": 5041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "ENST00000622375.4:c.4544G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479984.1:p.Arg1515His",
        "hgvsWellDefined": "ENSP00000479984.1:p.Arg1515His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS405693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662746",
      "coordinates": [
        {
          "allele": "A",
          "end": 3768,
          "referenceAllele": "G",
          "start": 3767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NM_173500.3:c.3329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775771.3:p.Arg1110His",
        "hgvsWellDefined": "NP_775771.3:p.Arg1110His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3901,
          "referenceAllele": "G",
          "start": 3900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254171.3:c.3347G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254228.1:p.Arg1116His",
        "hgvsWellDefined": "XP_005254228.1:p.Arg1116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060539"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3617,
          "referenceAllele": "G",
          "start": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254173.3:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254230.1:p.Arg1041His",
        "hgvsWellDefined": "XP_005254230.1:p.Arg1041His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060540"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3389,
          "referenceAllele": "G",
          "start": 3388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720402.2:c.3314G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720465.1:p.Arg1105His",
        "hgvsWellDefined": "XP_006720465.1:p.Arg1105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073641"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3373,
          "referenceAllele": "G",
          "start": 3372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720403.2:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720466.1:p.Arg1041His",
        "hgvsWellDefined": "XP_006720466.1:p.Arg1041His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073642"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3391,
          "referenceAllele": "G",
          "start": 3390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521267.1:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519569.1:p.Arg1041His",
        "hgvsWellDefined": "XP_011519569.1:p.Arg1041His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3617,
          "referenceAllele": "G",
          "start": 3616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521268.1:c.3062G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519570.1:p.Arg1021His",
        "hgvsWellDefined": "XP_011519570.1:p.Arg1021His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3133,
          "referenceAllele": "G",
          "start": 3132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_011521269.1:c.3050G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011519571.1:p.Arg1017His",
        "hgvsWellDefined": "XP_011519571.1:p.Arg1017His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4301,
          "referenceAllele": "G",
          "start": 4300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254171.5:c.3347G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254228.1:p.Arg1116His",
        "hgvsWellDefined": "XP_005254228.1:p.Arg1116His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534078"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3650,
          "referenceAllele": "G",
          "start": 3649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_005254173.5:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254230.1:p.Arg1041His",
        "hgvsWellDefined": "XP_005254230.1:p.Arg1041His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3377,
          "referenceAllele": "G",
          "start": 3376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720402.4:c.3314G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720465.1:p.Arg1105His",
        "hgvsWellDefined": "XP_006720465.1:p.Arg1105His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540080"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3544,
          "referenceAllele": "G",
          "start": 3543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_006720403.4:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720466.1:p.Arg1041His",
        "hgvsWellDefined": "XP_006720466.1:p.Arg1041His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540081"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3393,
          "referenceAllele": "G",
          "start": 3392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_017021950.2:c.3050G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877439.1:p.Arg1017His",
        "hgvsWellDefined": "XP_016877439.1:p.Arg1017His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573022"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4448,
          "referenceAllele": "G",
          "start": 4447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449849.1:c.3329G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305617.1:p.Arg1110His",
        "hgvsWellDefined": "XP_024305617.1:p.Arg1110His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583391"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3525,
          "referenceAllele": "G",
          "start": 3524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449850.1:c.3329G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305618.1:p.Arg1110His",
        "hgvsWellDefined": "XP_024305618.1:p.Arg1110His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583392"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4935,
          "referenceAllele": "G",
          "start": 4934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "XM_024449851.1:c.3122G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305619.1:p.Arg1041His",
        "hgvsWellDefined": "XP_024305619.1:p.Arg1041His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662746",
      "coordinates": [
        {
          "allele": "A",
          "end": 3737,
          "referenceAllele": "G",
          "start": 3736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019141",
      "geneNCBI_id": 146057,
      "geneSymbol": "TTBK2",
      "hgvs": [
        "NM_173500.4:c.3329G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_775771.3:p.Arg1110His",
        "hgvsWellDefined": "NP_775771.3:p.Arg1110His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672645",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000267890.11:c.3329G>A"
          },
          "RefSeq": {
            "hgvs": "NM_173500.4:c.3329G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000267890.6:p.Arg1110His"
          },
          "RefSeq": {
            "hgvs": "NP_775771.3:p.Arg1110His"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}