{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404256067",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2058429[alleleid]",
        "alleleId": 2058429,
        "preferredName": "NM_000528.4(MAN2B1):c.406C>T (p.Gln136Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2003070",
        "RCV": [
          "RCV002825067"
        ],
        "variationId": 2003070
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12776196G>A?assembly=hg19",
        "id": "chr19:g.12776196G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12665382G>A?assembly=hg38",
        "id": "chr19:g.12665382G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2512516231",
        "rs": 2512516231
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12665382,
          "referenceAllele": "G",
          "start": 12665381
        }
      ],
      "hgvs": [
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        "CM000681.2:g.12665382G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12776196,
          "referenceAllele": "G",
          "start": 12776195
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12776196G>A",
        "CM000681.1:g.12776196G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12637196,
          "referenceAllele": "G",
          "start": 12637195
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12637196G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6396,
          "referenceAllele": "C",
          "start": 6395
        }
      ],
      "hgvs": [
        "NG_008318.1:g.6396C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3579,
          "referenceAllele": "G",
          "start": 3578
        }
      ],
      "hgvs": [
        "NG_015814.1:g.3579G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002846"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.406C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000395473.2:p.Gln136_Gly1011delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Gln136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Gln136Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "referenceAllele": "C",
          "start": 438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:p.Gln136Ter",
        "hgvsWellDefined": "ENSP00000221363.4:p.Gln136_Gly1010delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.406C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000395473.2:p.Gln136_Gly1011delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 388,
          "referenceAllele": "C",
          "start": 387
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      ],
      "gene": "http://reg.genome.network/gene/GN006826",
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      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
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        }
      ],
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      "geneSymbol": "MAN2B1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000470174.1:p.His101="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS325552"
    },
    {
      "coordinates": [
        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
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      "geneSymbol": "MAN2B1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS395556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 397,
          "referenceAllele": "C",
          "start": 396
        }
      ],
      "hgvs": [
        "ENST00000597961.1:c.397C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472710.1:p.Gln133Ter",
        "hgvsWellDefined": "ENSP00000472710.1:p.Gln133_Phe195del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 468,
          "referenceAllele": "C",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
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      "geneSymbol": "MAN2B1",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000470533.1:p.Gln145Ter",
        "hgvsWellDefined": "ENSP00000470533.1:p.Gln145_Thr172del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS396597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
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      "geneSymbol": "MAN2B1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS397212"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825181851",
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      ],
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      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Gln136Ter",
        "hgvsWellDefined": "NP_000519.2:p.Gln136_Gly1011delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580158072",
      "coordinates": [
        {
          "allele": "T",
          "end": 482,
          "referenceAllele": "C",
          "start": 481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Gln136Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Gln136_Gly1010delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 460,
          "referenceAllele": "C",
          "start": 459
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Gln136Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Gln136_Gly1012delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Gln136Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Gln136_Gly1012delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 431,
          "referenceAllele": "C",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.-613C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:n.-613C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825181851",
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Gln136Ter",
        "hgvsWellDefined": "NP_000519.2:p.Gln136_Gly1011delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.406C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.406C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Gln136Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Gln136Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580158072",
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.406C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Gln136Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Gln136_Gly1010delinsGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}