{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA340426",
  "communityStandardTitle": [
    "NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20512[alleleid]",
        "alleleId": 20512,
        "preferredName": "NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5473",
        "RCV": [
          "RCV000005807",
          "RCV000487661"
        ],
        "variationId": 5473
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.12337410C>T?assembly=hg19",
        "id": "chr18:g.12337410C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr18:g.12337411C>T?assembly=hg38",
        "id": "chr18:g.12337411C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/151344523",
        "rs": 151344523
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-12337410-C-T?dataset=gnomad_r2_1",
        "id": "18-12337410-C-T",
        "variant": "18:12337410 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-12337411-C-T?dataset=gnomad_r3",
        "id": "18-12337411-C-T",
        "variant": "18:12337411 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/18-12337411-C-T?dataset=gnomad_r4",
        "id": "18-12337411-C-T",
        "variant": "18:12337411 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 12337411,
          "referenceAllele": "C",
          "start": 12337410
        }
      ],
      "hgvs": [
        "NC_000018.10:g.12337411C>T",
        "CM000680.2:g.12337411C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000066"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 12337410,
          "referenceAllele": "C",
          "start": 12337409
        }
      ],
      "hgvs": [
        "NC_000018.9:g.12337410C>T",
        "CM000680.1:g.12337410C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000042"
    },
    {
      "chromosome": "18",
      "coordinates": [
        {
          "allele": "T",
          "end": 12327410,
          "referenceAllele": "C",
          "start": 12327409
        }
      ],
      "hgvs": [
        "NC_000018.8:g.12327410C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000018"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 44866,
          "referenceAllele": "G",
          "start": 44865
        }
      ],
      "hgvs": [
        "NG_023361.1:g.44866G>A",
        "LRG_666:g.44866G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003817"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2024,
          "referenceAllele": "G",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000687337.1:c.*1701G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508998.1:n.*1701G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831038"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000687477.1:n.641G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1994,
          "referenceAllele": "G",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000688199.1:c.1967G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510237.1:p.Arg656Gln",
        "hgvsWellDefined": "ENSP00000510237.1:p.Arg656Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831495"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2057,
          "referenceAllele": "G",
          "start": 2056
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000691179.1:c.2030G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509010.1:p.Arg677Gln",
        "hgvsWellDefined": "ENSP00000509010.1:p.Arg677Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1876,
          "referenceAllele": "G",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000691970.1:c.*1482G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508440.1:n.*1482G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2263,
          "referenceAllele": "G",
          "start": 2262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000692497.1:c.*535G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509870.1:n.*535G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1923,
          "referenceAllele": "G",
          "start": 1922
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000692988.1:n.1923G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS834004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2250,
          "referenceAllele": "G",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000269143.8:c.2105G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269143.2:p.Arg702Gln",
        "hgvsWellDefined": "ENSP00000269143.2:p.Arg702Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743090",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269143.8:c.2105G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006796.3:c.2105G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269143.2:p.Arg702Gln"
          },
          "RefSeq": {
            "hgvs": "NP_006787.2:p.Arg702Gln"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2337,
          "referenceAllele": "G",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "ENST00000269143.7:c.2105G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000269143.2:p.Arg702Gln",
        "hgvsWellDefined": "ENSP00000269143.2:p.Arg702Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 87,
          "endIntronDirection": "-",
          "endIntronOffset": 6637,
          "referenceAllele": "C",
          "start": 87,
          "startIntronDirection": "-",
          "startIntronOffset": 6638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020776",
      "geneNCBI_id": 84617,
      "geneSymbol": "TUBB6",
      "hgvs": [
        "ENST00000586691.1:c.88-6638C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS389569"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110987",
      "coordinates": [
        {
          "allele": "A",
          "end": 2299,
          "referenceAllele": "G",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NM_006796.2:c.2105G>A",
        "LRG_666t1:c.2105G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006787.2:p.Arg702Gln",
        "hgvsWellDefined": "NP_006787.2:p.Arg702Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031778"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "XM_011525601.1:c.1904G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523903.1:p.Arg635Gln",
        "hgvsWellDefined": "XP_011523903.1:p.Arg635Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092719"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2131,
          "referenceAllele": "G",
          "start": 2130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "XM_011525601.3:c.1904G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011523903.1:p.Arg635Gln",
        "hgvsWellDefined": "XP_011523903.1:p.Arg635Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547946"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 509,
          "referenceAllele": "C",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 508
        }
      ],
      "hgvs": [
        "XR_002958227.1:n.451+509C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604353"
    },
    {
      "@id": "http://reg.genome.network/allele/PA110987",
      "coordinates": [
        {
          "allele": "A",
          "end": 2250,
          "referenceAllele": "G",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000315",
      "geneNCBI_id": 10939,
      "geneSymbol": "AFG3L2",
      "hgvs": [
        "NM_006796.3:c.2105G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_006787.2:p.Arg702Gln",
        "hgvsWellDefined": "NP_006787.2:p.Arg702Gln"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696819",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000269143.8:c.2105G>A"
          },
          "RefSeq": {
            "hgvs": "NM_006796.3:c.2105G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000269143.2:p.Arg702Gln"
          },
          "RefSeq": {
            "hgvs": "NP_006787.2:p.Arg702Gln"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}