{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346413",
  "communityStandardTitle": [
    "NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4628217",
        "active": true,
        "id": "COSM4628217"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=178530[alleleid]",
        "alleleId": 178530,
        "preferredName": "NM_002292.4(LAMB2):c.2890C>T (p.Arg964Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/180395",
        "RCV": [
          "RCV000157282"
        ],
        "variationId": 180395
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/3-49162353-G-A",
        "id": "3-49162353-G-A",
        "variant": "3:49162353 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49162353G>A?assembly=hg19",
        "id": "chr3:g.49162353G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.49124920G>A?assembly=hg38",
        "id": "chr3:g.49124920G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/730880125",
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    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49162353-G-A?dataset=gnomad_r2_1",
        "id": "3-49162353-G-A",
        "variant": "3:49162353 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49124920-G-A?dataset=gnomad_r3",
        "id": "3-49124920-G-A",
        "variant": "3:49124920 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-49124920-G-A?dataset=gnomad_r4",
        "id": "3-49124920-G-A",
        "variant": "3:49124920 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 49124920,
          "referenceAllele": "G",
          "start": 49124919
        }
      ],
      "hgvs": [
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        "CM000665.2:g.49124920G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 49162353,
          "referenceAllele": "G",
          "start": 49162352
        }
      ],
      "hgvs": [
        "NC_000003.11:g.49162353G>A",
        "CM000665.1:g.49162353G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "A",
          "end": 49137357,
          "referenceAllele": "G",
          "start": 49137356
        }
      ],
      "hgvs": [
        "NC_000003.10:g.49137357G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13247,
          "referenceAllele": "C",
          "start": 13246
        }
      ],
      "hgvs": [
        "NG_008094.1:g.13247C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1019,
          "referenceAllele": "C",
          "start": 1018
        }
      ],
      "hgvs": [
        "NG_054716.1:g.1019C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS617487"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3073,
          "referenceAllele": "C",
          "start": 3072
        }
      ],
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      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000307156.4:p.Arg964_Gln1798delinsCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745205",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.2890C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.2890C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:p.Arg964Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:p.Arg964Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3043,
          "referenceAllele": "C",
          "start": 3042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000305544.8:c.2890C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000307156.4:p.Arg964_Gln1798delinsCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255604"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3055,
          "referenceAllele": "C",
          "start": 3054
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000388325.1:p.Arg964Ter",
        "hgvsWellDefined": "ENSP00000388325.1:p.Arg964_Gln1798delinsCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285241"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 297,
          "referenceAllele": "C",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
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      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307074"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
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      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000464891.5:n.623C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308614"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000483057.1:n.490C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS322617"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 205,
          "referenceAllele": "C",
          "start": 204
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "ENST00000542580.1:n.205C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS363539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346414",
      "coordinates": [
        {
          "allele": "T",
          "end": 3189,
          "referenceAllele": "C",
          "start": 3188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.3:c.2890C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:p.Arg964Ter",
        "hgvsWellDefined": "NP_002283.3:p.Arg964_Gln1798delinsCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027612"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2988,
          "referenceAllele": "C",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.3:c.2890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:p.Arg964Ter",
        "hgvsWellDefined": "XP_005265184.1:p.Arg964_Gln1798delinsCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3003,
          "referenceAllele": "C",
          "start": 3002
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "XM_005265127.4:c.2890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265184.1:p.Arg964Ter",
        "hgvsWellDefined": "XP_005265184.1:p.Arg964_Gln1798delinsCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536006"
    },
    {
      "@id": "http://reg.genome.network/allele/PA346414",
      "coordinates": [
        {
          "allele": "T",
          "end": 3073,
          "referenceAllele": "C",
          "start": 3072
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006487",
      "geneNCBI_id": 3913,
      "geneSymbol": "LAMB2",
      "hgvs": [
        "NM_002292.4:c.2890C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002283.3:p.Arg964Ter",
        "hgvsWellDefined": "NP_002283.3:p.Arg964_Gln1798delinsCysGluAlaCysAlaProGlyHisPheGlyAspProSerArgProGlyGlyArgCysGlnLeuCysGluCysSerGlyAsnIleAspProMetAspProAspAlaCysAspProHisThrGlyGlnCysLeuArgCysLeuHisHisThrGluGlyProHisCysAlaHisCysLysProGlyPheHisGlyGlnAlaAlaArgGlnSerCysHisArgCysThrCysAsnLeuLeuGlyThrAsnProGlnGlnCysProSerProAspGlnCysHisCysAspProSerSerGlyGlnCysProCysLeuProAsnValGlnGlyProSerCysAspArgCysAlaProAsnPheTrpAsnLeuThrSerGlyHisGlyCysGlnProCysAlaCysHisProSerArgAlaArgGlyProThrCysAsnGluPheThrGlyGlnCysHisCysArgAlaGlyPheGlyGlyArgThrCysSerGluCysGlnGluLeuHisTrpGlyAspProGlyLeuGlnCysHisAlaCysAspCysAspSerArgGlyIleAspThrProGlnCysHisArgPheThrGlyHisCysSerCysArgProGlyValSerGlyValArgCysAspGlnCysAlaArgGlyPheSerGlyIlePheProAlaCysHisProCysHisAlaCysPheGlyAspTrpAspArgValValGlnAspLeuAlaAlaArgThrGlnArgLeuGluGlnArgAlaGlnGluLeuGlnGlnThrGlyValLeuGlyAlaPheGluSerSerPheTrpHisMetGlnGluLysLeuGlyIleValGlnGlyIleValGlyAlaArgAsnThrSerAlaAlaSerThrAlaGlnLeuValGluAlaThrGluGluLeuArgArgGluIleGlyGluAlaThrGluHisLeuThrGlnLeuGluAlaAspLeuThrAspValGlnAspGluAsnPheAsnAlaAsnHisAlaLeuSerGlyLeuGluArgAspArgLeuAlaLeuAsnLeuThrLeuArgGlnLeuAspGlnHisLeuAspLeuLeuLysHisSerAsnPheLeuGlyAlaTyrAspSerIleArgHisAlaHisSerGlnSerAlaGluAlaGluArgArgAlaAsnThrSerAlaLeuAlaValProSerProValSerAsnSerAlaSerAlaArgHisArgThrGluAlaLeuMetAspAlaGlnLysGluAspPheAsnSerLysHisMetAlaAsnGlnArgAlaLeuGlyLysLeuSerAlaHisThrHisThrLeuSerLeuThrAspIleAsnGluLeuValCysGlyAlaProGlyAspAlaProCysAlaThrSerProCysGlyGlyAlaGlyCysArgAspGluAspGlyGlnProArgCysGlyGlyLeuSerCysAsnGlyAlaAlaAlaThrAlaAspLeuAlaLeuGlyArgAlaArgHisThrGlnAlaGluLeuGlnArgAlaLeuAlaGluGlyGlySerIleLeuSerArgValAlaGluThrArgArgGlnAlaSerGluAlaGlnGlnArgAlaGlnAlaAlaLeuAspLysAlaAsnAlaSerArgGlyGlnValGluGlnAlaAsnGlnGluLeuGlnGluLeuIleGlnSerValLysAspPheLeuAsnGlnGluGlyAlaAspProAspSerIleGluMetValAlaThrArgValLeuGluLeuSerIleProAlaSerAlaGluGlnIleGlnHisLeuAlaGlyAlaIleAlaGluArgValArgSerLeuAlaAspValAspAlaIleLeuAlaArgThrValGlyAspValArgArgAlaGluGlnLeuLeuGlnAspAlaArgArgAlaArgSerTrpAlaGluAspGluLysGlnLysAlaGluThrValGlnAlaAlaLeuGluGluAlaGlnArgAlaGlnGlyIleAlaGlnGlyAlaIleArgGlyAlaValAlaAspThrArgAspThrGluGlnThrLeuTyrGlnValGlnGluArgMetAlaGlyAlaGluArgAlaLeuSerSerAlaGlyGluArgAlaArgGlnLeuAspAlaLeuLeuGluAlaLeuLysLeuLysArgAlaGlyAsnSerLeuAlaAlaSerThrAlaGluGluThrAlaGlySerAlaGlnGlyArgAlaGlnGluAlaGluGlnLeuLeuArgGlyProLeuGlyAspGlnTyrGlnThrValLysAlaLeuAlaGluArgLysAlaGlnGlyValLeuAlaAlaGlnAlaArgAlaGluGlnLeuArgAspGluAlaArgAspLeuLeuGlnAlaAlaGlnAspLysLeuGlnArgLeuGlnGluLeuGluGlyThrTyrGluGluAsnGluArgAlaLeuGluSerLysAlaAlaGlnLeuAspGlyLeuGluAlaArgMetArgSerValLeuGlnAlaIleAsnLeuGlnValGlnIleTyrAsnThrCysGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665455",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000305544.9:c.2890C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002292.4:c.2890C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000307156.4:p.Arg964Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002283.3:p.Arg964Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}