{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404247369",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=950671[alleleid]",
        "alleleId": 950671,
        "preferredName": "NM_000528.4(MAN2B1):c.1284T>G (p.Tyr428Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/959032",
        "RCV": [
          "RCV001232309"
        ],
        "variationId": 959032
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12768902A>C?assembly=hg19",
        "id": "chr19:g.12768902A>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12658088A>C?assembly=hg38",
        "id": "chr19:g.12658088A>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2024014272",
        "rs": 2024014272
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12658088,
          "referenceAllele": "A",
          "start": 12658087
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12658088A>C",
        "CM000681.2:g.12658088A>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12768902,
          "referenceAllele": "A",
          "start": 12768901
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12768902A>C",
        "CM000681.1:g.12768902A>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "C",
          "end": 12629902,
          "referenceAllele": "A",
          "start": 12629901
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12629902A>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13690,
          "referenceAllele": "T",
          "start": 13689
        }
      ],
      "hgvs": [
        "NG_008318.1:g.13690T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1325,
          "referenceAllele": "T",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.1284T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Tyr428Ter",
        "hgvsWellDefined": "ENSP00000395473.2:p.Tyr428_Gly1011delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.1284T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.1284T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Tyr428Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Tyr428Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1314,
          "referenceAllele": "T",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.1281T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:p.Tyr427Ter",
        "hgvsWellDefined": "ENSP00000221363.4:p.Tyr427_Gly1010delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1325,
          "referenceAllele": "T",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.1284T>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Tyr428Ter",
        "hgvsWellDefined": "ENSP00000395473.2:p.Tyr428_Gly1011delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 448,
          "referenceAllele": "T",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000465830.1:n.448T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309352"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1183,
          "referenceAllele": "T",
          "start": 1182
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000466794.5:n.1183T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 280,
          "endIntronDirection": "-",
          "endIntronOffset": 327,
          "referenceAllele": "T",
          "start": 280,
          "startIntronDirection": "-",
          "startIntronOffset": 328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000495617.1:n.281-328T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670132",
      "coordinates": [
        {
          "allele": "G",
          "end": 1360,
          "referenceAllele": "T",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.3:c.1284T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Tyr428Ter",
        "hgvsWellDefined": "NP_000519.2:p.Tyr428_Gly1011delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826093104",
      "coordinates": [
        {
          "allele": "G",
          "end": 1357,
          "referenceAllele": "T",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.1281T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Tyr427Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Tyr427_Gly1010delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1341,
          "referenceAllele": "T",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.1287T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Tyr429Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Tyr429_Gly1012delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 342,
          "referenceAllele": "T",
          "start": 341
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_011528017.1:c.183T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526319.1:p.Tyr61Ter",
        "hgvsWellDefined": "XP_011526319.1:p.Tyr61_Gly644delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1328,
          "referenceAllele": "T",
          "start": 1327
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.1287T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Tyr429Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Tyr429_Gly1012delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1226,
          "referenceAllele": "T",
          "start": 1225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.183T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:p.Tyr61Ter",
        "hgvsWellDefined": "XP_024307286.1:p.Tyr61_Gly644delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670132",
      "coordinates": [
        {
          "allele": "G",
          "end": 1325,
          "referenceAllele": "T",
          "start": 1324
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.1284T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Tyr428Ter",
        "hgvsWellDefined": "NP_000519.2:p.Tyr428_Gly1011delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.1284T>G"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.1284T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Tyr428Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Tyr428Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826093104",
      "coordinates": [
        {
          "allele": "G",
          "end": 1322,
          "referenceAllele": "T",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.1281T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Tyr427Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Tyr427_Gly1010delinsGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}