{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA74476290",
  "communityStandardTitle": [
    "NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962921[alleleid]",
        "alleleId": 962921,
        "preferredName": "NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/974626",
        "RCV": [
          "RCV001328152"
        ],
        "variationId": 974626
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49160191G>A?assembly=hg19",
        "id": "chr3:g.49160191G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49122758G>A?assembly=hg38",
        "id": "chr3:g.49122758G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/974891221",
        "rs": 974891221
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 49122758,
          "referenceAllele": "G",
          "start": 49122757
        }
      ],
      "hgvs": [
        "NC_000003.12:g.49122758G>A",
        "CM000665.2:g.49122758G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 49160191,
          "referenceAllele": "G",
          "start": 49160190
        }
      ],
      "hgvs": [
        "NC_000003.11:g.49160191G>A",
        "CM000665.1:g.49160191G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 49135195,
          "referenceAllele": "G",
          "start": 49135194
        }
      ],
      "hgvs": [
        "NC_000003.10:g.49135195G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15409,
          "referenceAllele": "C",
          "start": 15408
        }
      ],
      "hgvs": [
        "NG_008094.1:g.15409C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3181,
          "referenceAllele": "C",
          "start": 3180
        }
      ],
      "hgvs": [
        "NG_054716.1:g.3181C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS617487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4702,
          "referenceAllele": "C",
          "start": 4701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.9:c.4519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307156.4:p.Gln1507Ter",
        "hgvsWellDefined": "ENSP00000307156.4:p.Gln1507_Gln1798delinsAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.4519C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.4519C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:p.Gln1507Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:p.Gln1507Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4672,
          "referenceAllele": "C",
          "start": 4671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.8:c.4519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000307156.4:p.Gln1507Ter",
        "hgvsWellDefined": "ENSP00000307156.4:p.Gln1507_Gln1798delinsAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4684,
          "referenceAllele": "C",
          "start": 4683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000418109.5:c.4519C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000388325.1:p.Gln1507Ter",
        "hgvsWellDefined": "ENSP00000388325.1:p.Gln1507_Gln1798delinsAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 828,
          "referenceAllele": "C",
          "start": 827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000469665.1:n.828C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS312296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139716720",
      "coordinates": [
        {
          "allele": "T",
          "end": 4818,
          "referenceAllele": "C",
          "start": 4817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.3:c.4519C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:p.Gln1507Ter",
        "hgvsWellDefined": "NP_002283.3:p.Gln1507_Gln1798delinsAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4617,
          "referenceAllele": "C",
          "start": 4616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.3:c.4519C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:p.Gln1507Ter",
        "hgvsWellDefined": "XP_005265184.1:p.Gln1507_Gln1798delinsAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4632,
          "referenceAllele": "C",
          "start": 4631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.4:c.4519C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:p.Gln1507Ter",
        "hgvsWellDefined": "XP_005265184.1:p.Gln1507_Gln1798delinsAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139716720",
      "coordinates": [
        {
          "allele": "T",
          "end": 4702,
          "referenceAllele": "C",
          "start": 4701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.4:c.4519C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:p.Gln1507Ter",
        "hgvsWellDefined": "NP_002283.3:p.Gln1507_Gln1798delinsAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.4519C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.4519C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:p.Gln1507Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:p.Gln1507Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}