{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA6127673",
  "communityStandardTitle": [
    "NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3163080[alleleid]",
        "alleleId": 3163080,
        "preferredName": "NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2996372",
        "RCV": [
          "RCV003856523"
        ],
        "variationId": 2996372
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-66453562-G-A",
        "id": "11-66453562-G-A",
        "variant": "11:66453562 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66453562G>A?assembly=hg19",
        "id": "chr11:g.66453562G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.66686091G>A?assembly=hg38",
        "id": "chr11:g.66686091G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/780506142",
        "rs": 780506142
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66453562-G-A?dataset=gnomad_r2_1",
        "id": "11-66453562-G-A",
        "variant": "11:66453562 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66686091-G-A?dataset=gnomad_r3",
        "id": "11-66686091-G-A",
        "variant": "11:66686091 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-66686091-G-A?dataset=gnomad_r4",
        "id": "11-66686091-G-A",
        "variant": "11:66686091 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66686091,
          "referenceAllele": "G",
          "start": 66686090
        }
      ],
      "hgvs": [
        "NC_000011.10:g.66686091G>A",
        "CM000673.2:g.66686091G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66453562,
          "referenceAllele": "G",
          "start": 66453561
        }
      ],
      "hgvs": [
        "NC_000011.9:g.66453562G>A",
        "CM000673.1:g.66453562G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 66210138,
          "referenceAllele": "G",
          "start": 66210137
        }
      ],
      "hgvs": [
        "NC_000011.8:g.66210138G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 40309,
          "referenceAllele": "C",
          "start": 40308
        }
      ],
      "hgvs": [
        "NG_016150.1:g.40309C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 48271,
          "referenceAllele": "C",
          "start": 48270
        }
      ],
      "hgvs": [
        "NG_016150.2:g.48271C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616214"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7461,
          "referenceAllele": "C",
          "start": 7460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000309996.7:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311489.2:p.Ser2318Leu",
        "hgvsWellDefined": "ENSP00000311489.2:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7556,
          "referenceAllele": "C",
          "start": 7555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000611817.5:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480692.2:p.Ser2318Leu",
        "hgvsWellDefined": "ENSP00000480692.2:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7226,
          "referenceAllele": "C",
          "start": 7225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000617502.5:c.6974C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482000.2:p.Ser2325Leu",
        "hgvsWellDefined": "ENSP00000482000.2:p.Ser2325Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7638,
          "referenceAllele": "C",
          "start": 7637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000647510.2:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508362.1:p.Ser2318Leu",
        "hgvsWellDefined": "ENSP00000508362.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7542,
          "referenceAllele": "C",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000533211.6:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432568.1:p.Ser2318Leu",
        "hgvsWellDefined": "ENSP00000432568.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759327",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.6953C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.6953C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Ser2318Leu"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Ser2318Leu"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7480,
          "referenceAllele": "C",
          "start": 7479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000647510.1:n.7480C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7025,
          "referenceAllele": "C",
          "start": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000309996.6:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000311489.2:p.Ser2318Leu",
        "hgvsWellDefined": "ENSP00000311489.2:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256299"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 134,
          "referenceAllele": "C",
          "start": 133
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000528051.1:n.134C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS353646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7246,
          "referenceAllele": "C",
          "start": 7245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000529997.5:c.7246C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433593.1:n.7246C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS355320"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7285,
          "referenceAllele": "C",
          "start": 7284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000533211.5:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432568.1:p.Ser2318Leu",
        "hgvsWellDefined": "ENSP00000432568.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2628,
          "referenceAllele": "C",
          "start": 2627
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000611817.4:c.2585C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480692.1:p.Ser862Leu",
        "hgvsWellDefined": "ENSP00000480692.1:p.Ser862Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS401027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2657,
          "referenceAllele": "C",
          "start": 2656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "ENST00000617502.4:c.2585C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482000.1:p.Ser862Leu",
        "hgvsWellDefined": "ENSP00000482000.1:p.Ser862Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403508"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7025,
          "referenceAllele": "C",
          "start": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.2:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.1:p.Ser2318Leu",
        "hgvsWellDefined": "NP_008877.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7563,
          "referenceAllele": "C",
          "start": 7562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274192.3:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274249.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_005274249.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067859"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7461,
          "referenceAllele": "C",
          "start": 7460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274193.3:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274250.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_005274250.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067860"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7226,
          "referenceAllele": "C",
          "start": 7225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718669.2:c.6974C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718732.1:p.Ser2325Leu",
        "hgvsWellDefined": "XP_006718732.1:p.Ser2325Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072743"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7089,
          "referenceAllele": "C",
          "start": 7088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718671.2:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718734.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_006718734.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072744"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7025,
          "referenceAllele": "C",
          "start": 7024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.3:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.1:p.Ser2318Leu",
        "hgvsWellDefined": "NP_008877.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7687,
          "referenceAllele": "C",
          "start": 7686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_005274192.4:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274249.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_005274249.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9374,
          "referenceAllele": "C",
          "start": 9373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718669.3:c.6974C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718732.1:p.Ser2325Leu",
        "hgvsWellDefined": "XP_006718732.1:p.Ser2325Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7088,
          "referenceAllele": "C",
          "start": 7087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_006718671.4:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718734.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_006718734.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7779,
          "referenceAllele": "C",
          "start": 7778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018174.1:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873663.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_016873663.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570178"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7409,
          "referenceAllele": "C",
          "start": 7408
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018175.2:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873664.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_016873664.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7128,
          "referenceAllele": "C",
          "start": 7127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018176.1:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873665.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_016873665.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7318,
          "referenceAllele": "C",
          "start": 7317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018177.2:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873666.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_016873666.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570181"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7000,
          "referenceAllele": "C",
          "start": 6999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "XM_017018178.1:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873667.1:p.Ser2318Leu",
        "hgvsWellDefined": "XP_016873667.1:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS570182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829680138",
      "coordinates": [
        {
          "allele": "T",
          "end": 7542,
          "referenceAllele": "C",
          "start": 7541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NM_006946.4:c.6953C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_008877.2:p.Ser2318Leu",
        "hgvsWellDefined": "NP_008877.2:p.Ser2318Leu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696863",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000533211.6:c.6953C>T"
          },
          "RefSeq": {
            "hgvs": "NM_006946.4:c.6953C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000432568.1:p.Ser2318Leu"
          },
          "RefSeq": {
            "hgvs": "NP_008877.2:p.Ser2318Leu"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}