{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341767232",
  "communityStandardTitle": [
    "NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=481557[alleleid]",
        "alleleId": 481557,
        "preferredName": "NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/488772",
        "RCV": [
          "RCV000579287",
          "RCV002529041",
          "RCV003338669"
        ],
        "variationId": 488772
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.116311048C>A?assembly=hg19",
        "id": "chr1:g.116311048C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.115768427C>A?assembly=hg38",
        "id": "chr1:g.115768427C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/756636650",
        "rs": 756636650
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-115768427-C-A?dataset=gnomad_r4",
        "id": "1-115768427-C-A",
        "variant": "1:115768427 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 115768427,
          "referenceAllele": "C",
          "start": 115768426
        }
      ],
      "hgvs": [
        "NC_000001.11:g.115768427C>A",
        "CM000663.2:g.115768427C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 116311048,
          "referenceAllele": "C",
          "start": 116311047
        }
      ],
      "hgvs": [
        "NC_000001.10:g.116311048C>A",
        "CM000663.1:g.116311048C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 116112571,
          "referenceAllele": "C",
          "start": 116112570
        }
      ],
      "hgvs": [
        "NC_000001.9:g.116112571C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5379,
          "referenceAllele": "G",
          "start": 5378
        }
      ],
      "hgvs": [
        "NG_008802.1:g.5379G>T",
        "LRG_404:g.5379G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001221"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 111,
          "referenceAllele": "G",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000488931.2:c.-162G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518226.1:n.-162G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000261448.6:c.115G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261448.5:p.Glu39Ter",
        "hgvsWellDefined": "ENSP00000261448.5:p.Glu39_Glu399delinsLysAsnPheLysGlnValLeuLysLysTyrAspLeuLeuCysLeuTyrTyrHisGluProValSerSerAspLysValThrGlnLysGlnPheGlnLeuLysGluIleValLeuGluLeuValAlaGlnValLeuGluHisLysAlaIleGlyPheValMetValAspAlaLysLysGluAlaLysLeuAlaLysLysLeuGlyPheAspGluGluGlySerLeuTyrIleLeuLysGlyAspArgThrIleGluPheAspGlyGluPheAlaAlaAspValLeuValGluPheLeuLeuAspLeuIleGluAspProValGluIleIleSerSerLysLeuGluValGlnAlaPheGluArgIleGluAspTyrIleLysLeuIleGlyPhePheLysSerGluAspSerGluTyrTyrLysAlaPheGluGluAlaAlaGluHisPheGlnProTyrIleLysPhePheAlaThrPheAspLysGlyValAlaLysLysLeuSerLeuLysMetAsnGluValAspPheTyrGluProPheMetAspGluProIleAlaIleProAsnLysProTyrThrGluGluGluLeuValGluPheValLysGluHisGlnArgProThrLeuArgArgLeuArgProGluGluMetPheGluThrTrpGluAspAspLeuAsnGlyIleHisIleValAlaPheAlaGluLysSerAspProAspGlyTyrGluPheLeuGluIleLeuLysGlnValAlaArgAspAsnThrAspAsnProAspLeuSerIleLeuTrpIleAspProAspAspPheProLeuLeuValAlaTyrTrpGluLysThrPheLysIleAspLeuPheArgProGlnIleGlyValValAsnValThrAspAlaAspSerValTrpMetGluIleProAspAspAspAspLeuProThrAlaGluGluLeuGluAspTrpIleGluAspValLeuSerGlyLysIleAsnThrGluAspAspAspGluAspAspAspAspAspAspAsnSerAspGluGluAspAsnAspAspSerAspAspAspAspAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742143",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261448.6:c.115G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001232.4:c.115G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261448.5:p.Glu39Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001223.2:p.Glu39Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 355,
          "referenceAllele": "G",
          "start": 354
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "ENST00000261448.5:c.115G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261448.5:p.Glu39Ter",
        "hgvsWellDefined": "ENSP00000261448.5:p.Glu39_Glu399delinsLysAsnPheLysGlnValLeuLysLysTyrAspLeuLeuCysLeuTyrTyrHisGluProValSerSerAspLysValThrGlnLysGlnPheGlnLeuLysGluIleValLeuGluLeuValAlaGlnValLeuGluHisLysAlaIleGlyPheValMetValAspAlaLysLysGluAlaLysLeuAlaLysLysLeuGlyPheAspGluGluGlySerLeuTyrIleLeuLysGlyAspArgThrIleGluPheAspGlyGluPheAlaAlaAspValLeuValGluPheLeuLeuAspLeuIleGluAspProValGluIleIleSerSerLysLeuGluValGlnAlaPheGluArgIleGluAspTyrIleLysLeuIleGlyPhePheLysSerGluAspSerGluTyrTyrLysAlaPheGluGluAlaAlaGluHisPheGlnProTyrIleLysPhePheAlaThrPheAspLysGlyValAlaLysLysLeuSerLeuLysMetAsnGluValAspPheTyrGluProPheMetAspGluProIleAlaIleProAsnLysProTyrThrGluGluGluLeuValGluPheValLysGluHisGlnArgProThrLeuArgArgLeuArgProGluGluMetPheGluThrTrpGluAspAspLeuAsnGlyIleHisIleValAlaPheAlaGluLysSerAspProAspGlyTyrGluPheLeuGluIleLeuLysGlnValAlaArgAspAsnThrAspAsnProAspLeuSerIleLeuTrpIleAspProAspAspPheProLeuLeuValAlaTyrTrpGluLysThrPheLysIleAspLeuPheArgProGlnIleGlyValValAsnValThrAspAlaAspSerValTrpMetGluIleProAspAspAspAspLeuProThrAlaGluGluLeuGluAspTrpIleGluAspValLeuSerGlyLysIleAsnThrGluAspAspAspGluAspAspAspAspAspAspAsnSerAspGluGluAspAsnAspAspSerAspAspAspAspAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658742041",
      "coordinates": [
        {
          "allele": "T",
          "end": 379,
          "referenceAllele": "G",
          "start": 378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "NM_001232.3:c.115G>T",
        "LRG_404t1:c.115G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001223.2:p.Glu39Ter",
        "hgvsWellDefined": "NP_001223.2:p.Glu39_Glu399delinsLysAsnPheLysGlnValLeuLysLysTyrAspLeuLeuCysLeuTyrTyrHisGluProValSerSerAspLysValThrGlnLysGlnPheGlnLeuLysGluIleValLeuGluLeuValAlaGlnValLeuGluHisLysAlaIleGlyPheValMetValAspAlaLysLysGluAlaLysLeuAlaLysLysLeuGlyPheAspGluGluGlySerLeuTyrIleLeuLysGlyAspArgThrIleGluPheAspGlyGluPheAlaAlaAspValLeuValGluPheLeuLeuAspLeuIleGluAspProValGluIleIleSerSerLysLeuGluValGlnAlaPheGluArgIleGluAspTyrIleLysLeuIleGlyPhePheLysSerGluAspSerGluTyrTyrLysAlaPheGluGluAlaAlaGluHisPheGlnProTyrIleLysPhePheAlaThrPheAspLysGlyValAlaLysLysLeuSerLeuLysMetAsnGluValAspPheTyrGluProPheMetAspGluProIleAlaIleProAsnLysProTyrThrGluGluGluLeuValGluPheValLysGluHisGlnArgProThrLeuArgArgLeuArgProGluGluMetPheGluThrTrpGluAspAspLeuAsnGlyIleHisIleValAlaPheAlaGluLysSerAspProAspGlyTyrGluPheLeuGluIleLeuLysGlnValAlaArgAspAsnThrAspAsnProAspLeuSerIleLeuTrpIleAspProAspAspPheProLeuLeuValAlaTyrTrpGluLysThrPheLysIleAspLeuPheArgProGlnIleGlyValValAsnValThrAspAlaAspSerValTrpMetGluIleProAspAspAspAspLeuProThrAlaGluGluLeuGluAspTrpIleGluAspValLeuSerGlyLysIleAsnThrGluAspAspAspGluAspAspAspAspAspAspAsnSerAspGluGluAspAsnAspAspSerAspAspAspAspAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018048"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658742041",
      "coordinates": [
        {
          "allele": "T",
          "end": 288,
          "referenceAllele": "G",
          "start": 287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001513",
      "geneNCBI_id": 845,
      "geneSymbol": "CASQ2",
      "hgvs": [
        "NM_001232.4:c.115G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001223.2:p.Glu39Ter",
        "hgvsWellDefined": "NP_001223.2:p.Glu39_Glu399delinsLysAsnPheLysGlnValLeuLysLysTyrAspLeuLeuCysLeuTyrTyrHisGluProValSerSerAspLysValThrGlnLysGlnPheGlnLeuLysGluIleValLeuGluLeuValAlaGlnValLeuGluHisLysAlaIleGlyPheValMetValAspAlaLysLysGluAlaLysLeuAlaLysLysLeuGlyPheAspGluGluGlySerLeuTyrIleLeuLysGlyAspArgThrIleGluPheAspGlyGluPheAlaAlaAspValLeuValGluPheLeuLeuAspLeuIleGluAspProValGluIleIleSerSerLysLeuGluValGlnAlaPheGluArgIleGluAspTyrIleLysLeuIleGlyPhePheLysSerGluAspSerGluTyrTyrLysAlaPheGluGluAlaAlaGluHisPheGlnProTyrIleLysPhePheAlaThrPheAspLysGlyValAlaLysLysLeuSerLeuLysMetAsnGluValAspPheTyrGluProPheMetAspGluProIleAlaIleProAsnLysProTyrThrGluGluGluLeuValGluPheValLysGluHisGlnArgProThrLeuArgArgLeuArgProGluGluMetPheGluThrTrpGluAspAspLeuAsnGlyIleHisIleValAlaPheAlaGluLysSerAspProAspGlyTyrGluPheLeuGluIleLeuLysGlnValAlaArgAspAsnThrAspAsnProAspLeuSerIleLeuTrpIleAspProAspAspPheProLeuLeuValAlaTyrTrpGluLysThrPheLysIleAspLeuPheArgProGlnIleGlyValValAsnValThrAspAlaAspSerValTrpMetGluIleProAspAspAspAspLeuProThrAlaGluGluLeuGluAspTrpIleGluAspValLeuSerGlyLysIleAsnThrGluAspAspAspGluAspAspAspAspAspAspAsnSerAspGluGluAspAsnAspAspSerAspAspAspAspAspGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714296",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000261448.6:c.115G>T"
          },
          "RefSeq": {
            "hgvs": "NM_001232.4:c.115G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000261448.5:p.Glu39Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001223.2:p.Glu39Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}