{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6128304",
  "communityStandardTitle": [
    "NM_006946.4(SPTBN2):c.5305C>T (p.Arg1769Trp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1944067[alleleid]",
        "alleleId": 1944067,
        "preferredName": "NM_006946.4(SPTBN2):c.5305C>T (p.Arg1769Trp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2416907",
        "RCV": [
          "RCV003109158"
        ],
        "variationId": 2416907
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-66459015-G-A",
        "id": "11-66459015-G-A",
        "variant": "11:66459015 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66459015G>A?assembly=hg19",
        "id": "chr11:g.66459015G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66691544G>A?assembly=hg38",
        "id": "chr11:g.66691544G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/146455382",
        "rs": 146455382
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66459015-G-A?dataset=gnomad_r2_1",
        "id": "11-66459015-G-A",
        "variant": "11:66459015 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66691544-G-A?dataset=gnomad_r3",
        "id": "11-66691544-G-A",
        "variant": "11:66691544 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66691544-G-A?dataset=gnomad_r4",
        "id": "11-66691544-G-A",
        "variant": "11:66691544 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66691544,
          "referenceAllele": "G",
          "start": 66691543
        }
      ],
      "hgvs": [
        "NC_000011.10:g.66691544G>A",
        "CM000673.2:g.66691544G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66459015,
          "referenceAllele": "G",
          "start": 66459014
        }
      ],
      "hgvs": [
        "NC_000011.9:g.66459015G>A",
        "CM000673.1:g.66459015G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66215591,
          "referenceAllele": "G",
          "start": 66215590
        }
      ],
      "hgvs": [
        "NC_000011.8:g.66215591G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34856,
          "referenceAllele": "C",
          "start": 34855
        }
      ],
      "hgvs": [
        "NG_016150.1:g.34856C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42818,
          "referenceAllele": "C",
          "start": 42817
        }
      ],
      "hgvs": [
        "NG_016150.2:g.42818C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616214"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5813,
          "referenceAllele": "C",
          "start": 5812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000309996.7:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311489.2:p.Arg1769Trp",
        "hgvsWellDefined": "ENSP00000311489.2:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5908,
          "referenceAllele": "C",
          "start": 5907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000611817.5:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480692.2:p.Arg1769Trp",
        "hgvsWellDefined": "ENSP00000480692.2:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5578,
          "referenceAllele": "C",
          "start": 5577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000617502.5:c.5326C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482000.2:p.Arg1776Trp",
        "hgvsWellDefined": "ENSP00000482000.2:p.Arg1776Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5990,
          "referenceAllele": "C",
          "start": 5989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000647510.2:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508362.1:p.Arg1769Trp",
        "hgvsWellDefined": "ENSP00000508362.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5894,
          "referenceAllele": "C",
          "start": 5893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000533211.6:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432568.1:p.Arg1769Trp",
        "hgvsWellDefined": "ENSP00000432568.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759327",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.5305C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.5305C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Arg1769Trp"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Arg1769Trp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5832,
          "referenceAllele": "C",
          "start": 5831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000647510.1:n.5832C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5377,
          "referenceAllele": "C",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000309996.6:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311489.2:p.Arg1769Trp",
        "hgvsWellDefined": "ENSP00000311489.2:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5305,
          "referenceAllele": "C",
          "start": 5304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000529997.5:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433593.1:p.Arg1769Trp",
        "hgvsWellDefined": "ENSP00000433593.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5637,
          "referenceAllele": "C",
          "start": 5636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000533211.5:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432568.1:p.Arg1769Trp",
        "hgvsWellDefined": "ENSP00000432568.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1897,
          "endIntronDirection": "-",
          "endIntronOffset": 2882,
          "referenceAllele": "C",
          "start": 1897,
          "startIntronDirection": "-",
          "startIntronOffset": 2883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000611817.4:c.1855-2883C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480692.1:n.1855-2883C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1917,
          "endIntronDirection": "-",
          "endIntronOffset": 2187,
          "referenceAllele": "C",
          "start": 1917,
          "startIntronDirection": "-",
          "startIntronOffset": 2188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000617502.4:c.1846-2188C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482000.1:n.1846-2188C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5377,
          "referenceAllele": "C",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.2:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.1:p.Arg1769Trp",
        "hgvsWellDefined": "NP_008877.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5915,
          "referenceAllele": "C",
          "start": 5914
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274192.3:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274249.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_005274249.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5813,
          "referenceAllele": "C",
          "start": 5812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274193.3:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274250.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_005274250.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5578,
          "referenceAllele": "C",
          "start": 5577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718669.2:c.5326C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718732.1:p.Arg1776Trp",
        "hgvsWellDefined": "XP_006718732.1:p.Arg1776Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5441,
          "referenceAllele": "C",
          "start": 5440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718671.2:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718734.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_006718734.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5377,
          "referenceAllele": "C",
          "start": 5376
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.3:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.1:p.Arg1769Trp",
        "hgvsWellDefined": "NP_008877.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6039,
          "referenceAllele": "C",
          "start": 6038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274192.4:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274249.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_005274249.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7726,
          "referenceAllele": "C",
          "start": 7725
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718669.3:c.5326C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718732.1:p.Arg1776Trp",
        "hgvsWellDefined": "XP_006718732.1:p.Arg1776Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5440,
          "referenceAllele": "C",
          "start": 5439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718671.4:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718734.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_006718734.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6131,
          "referenceAllele": "C",
          "start": 6130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018174.1:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873663.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_016873663.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5761,
          "referenceAllele": "C",
          "start": 5760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018175.2:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873664.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_016873664.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5480,
          "referenceAllele": "C",
          "start": 5479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018176.1:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873665.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_016873665.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5670,
          "referenceAllele": "C",
          "start": 5669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018177.2:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873666.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_016873666.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5352,
          "referenceAllele": "C",
          "start": 5351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018178.1:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873667.1:p.Arg1769Trp",
        "hgvsWellDefined": "XP_016873667.1:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829679943",
      "coordinates": [
        {
          "allele": "T",
          "end": 5894,
          "referenceAllele": "C",
          "start": 5893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.4:c.5305C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.2:p.Arg1769Trp",
        "hgvsWellDefined": "NP_008877.2:p.Arg1769Trp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.5305C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.5305C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Arg1769Trp"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Arg1769Trp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}