{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA381482753",
  "communityStandardTitle": [
    "NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1017498[alleleid]",
        "alleleId": 1017498,
        "preferredName": "NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1029118",
        "RCV": [
          "RCV001330338"
        ],
        "variationId": 1029118
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66478461G>A?assembly=hg19",
        "id": "chr11:g.66478461G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66710990G>A?assembly=hg38",
        "id": "chr11:g.66710990G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1941829953",
        "rs": 1941829953
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66710990,
          "referenceAllele": "G",
          "start": 66710989
        }
      ],
      "hgvs": [
        "NC_000011.10:g.66710990G>A",
        "CM000673.2:g.66710990G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66478461,
          "referenceAllele": "G",
          "start": 66478460
        }
      ],
      "hgvs": [
        "NC_000011.9:g.66478461G>A",
        "CM000673.1:g.66478461G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66235037,
          "referenceAllele": "G",
          "start": 66235036
        }
      ],
      "hgvs": [
        "NC_000011.8:g.66235037G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15410,
          "referenceAllele": "C",
          "start": 15409
        }
      ],
      "hgvs": [
        "NG_016150.1:g.15410C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23372,
          "referenceAllele": "C",
          "start": 23371
        }
      ],
      "hgvs": [
        "NG_016150.2:g.23372C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616214"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000309996.7:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311489.2:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000311489.2:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1415,
          "referenceAllele": "C",
          "start": 1414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000611817.5:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480692.2:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000480692.2:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000617502.5:c.833C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482000.2:p.Thr278Ile",
        "hgvsWellDefined": "ENSP00000482000.2:p.Thr278Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1497,
          "referenceAllele": "C",
          "start": 1496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000647510.2:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508362.1:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000508362.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000533211.6:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432568.1:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000432568.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759327",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.812C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.812C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Thr271Ile"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Thr271Ile"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "C",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000647510.1:n.1339C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000309996.6:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311489.2:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000311489.2:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "C",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000529997.5:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433593.1:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000433593.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1144,
          "referenceAllele": "C",
          "start": 1143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000533211.5:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432568.1:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000432568.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000611817.4:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480692.1:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000480692.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000617502.4:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482000.1:p.Thr271Ile",
        "hgvsWellDefined": "ENSP00000482000.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.2:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.1:p.Thr271Ile",
        "hgvsWellDefined": "NP_008877.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "referenceAllele": "C",
          "start": 1421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274192.3:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274249.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_005274249.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274193.3:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274250.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_005274250.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718669.2:c.833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718732.1:p.Thr278Ile",
        "hgvsWellDefined": "XP_006718732.1:p.Thr278Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 948,
          "referenceAllele": "C",
          "start": 947
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718671.2:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718734.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_006718734.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_011545216.1:c.833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543518.1:p.Thr278Ile",
        "hgvsWellDefined": "XP_011543518.1:p.Thr278Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112120"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1097,
          "referenceAllele": "C",
          "start": 1096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_011545217.1:c.833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543519.1:p.Thr278Ile",
        "hgvsWellDefined": "XP_011543519.1:p.Thr278Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112121"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 884,
          "referenceAllele": "C",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.3:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.1:p.Thr271Ile",
        "hgvsWellDefined": "NP_008877.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274192.4:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274249.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_005274249.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3233,
          "referenceAllele": "C",
          "start": 3232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718669.3:c.833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718732.1:p.Thr278Ile",
        "hgvsWellDefined": "XP_006718732.1:p.Thr278Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 947,
          "referenceAllele": "C",
          "start": 946
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718671.4:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718734.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_006718734.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3243,
          "referenceAllele": "C",
          "start": 3242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_011545216.3:c.833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543518.1:p.Thr278Ile",
        "hgvsWellDefined": "XP_011543518.1:p.Thr278Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3243,
          "referenceAllele": "C",
          "start": 3242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_011545217.2:c.833C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543519.1:p.Thr278Ile",
        "hgvsWellDefined": "XP_011543519.1:p.Thr278Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555993"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1638,
          "referenceAllele": "C",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018174.1:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873663.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_016873663.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018175.2:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873664.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_016873664.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 987,
          "referenceAllele": "C",
          "start": 986
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018176.1:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873665.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_016873665.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1177,
          "referenceAllele": "C",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018177.2:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873666.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_016873666.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018178.1:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873667.1:p.Thr271Ile",
        "hgvsWellDefined": "XP_016873667.1:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499275468",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.4:c.812C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.2:p.Thr271Ile",
        "hgvsWellDefined": "NP_008877.2:p.Thr271Ile"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.812C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.812C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Thr271Ile"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Thr271Ile"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}