{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA404246850",
  "communityStandardTitle": [
    "NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=972322[alleleid]",
        "alleleId": 972322,
        "preferredName": "NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/984241",
        "RCV": [
          "RCV001264251"
        ],
        "variationId": 984241
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12768316G>A?assembly=hg19",
        "id": "chr19:g.12768316G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.12657502G>A?assembly=hg38",
        "id": "chr19:g.12657502G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2023996617",
        "rs": 2023996617
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-12657502-G-A?dataset=gnomad_r4",
        "id": "19-12657502-G-A",
        "variant": "19:12657502 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12657502,
          "referenceAllele": "G",
          "start": 12657501
        }
      ],
      "hgvs": [
        "NC_000019.10:g.12657502G>A",
        "CM000681.2:g.12657502G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12768316,
          "referenceAllele": "G",
          "start": 12768315
        }
      ],
      "hgvs": [
        "NC_000019.9:g.12768316G>A",
        "CM000681.1:g.12768316G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 12629316,
          "referenceAllele": "G",
          "start": 12629315
        }
      ],
      "hgvs": [
        "NC_000019.8:g.12629316G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 14276,
          "referenceAllele": "C",
          "start": 14275
        }
      ],
      "hgvs": [
        "NG_008318.1:g.14276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001025"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.7:c.1363C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Gln455Ter",
        "hgvsWellDefined": "ENSP00000395473.2:p.Gln455_Gly1011delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756575",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.1363C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.1363C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Gln455Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Gln455Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000221363.8:c.1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000221363.4:p.Gln454Ter",
        "hgvsWellDefined": "ENSP00000221363.4:p.Gln454_Gly1010delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000456935.6:c.1363C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395473.2:p.Gln455Ter",
        "hgvsWellDefined": "ENSP00000395473.2:p.Gln455_Gly1011delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 527,
          "referenceAllele": "C",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000465830.1:n.527C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS309352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1262,
          "referenceAllele": "C",
          "start": 1261
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000466794.5:n.1262C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 539,
          "referenceAllele": "C",
          "start": 538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "ENST00000495617.1:n.539C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332284"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670138",
      "coordinates": [
        {
          "allele": "T",
          "end": 1439,
          "referenceAllele": "C",
          "start": 1438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.3:c.1363C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Gln455Ter",
        "hgvsWellDefined": "NP_000519.2:p.Gln455_Gly1011delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006585"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826093148",
      "coordinates": [
        {
          "allele": "T",
          "end": 1436,
          "referenceAllele": "C",
          "start": 1435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.1:c.1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Gln454Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Gln454_Gly1010delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1420,
          "referenceAllele": "C",
          "start": 1419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.1:c.1366C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Gln456Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Gln456_Gly1012delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062591"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "referenceAllele": "C",
          "start": 420
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_011528017.1:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011526319.1:p.Gln88Ter",
        "hgvsWellDefined": "XP_011526319.1:p.Gln88_Gly644delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS095096"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_005259913.2:c.1366C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005259970.1:p.Gln456Ter",
        "hgvsWellDefined": "XP_005259970.1:p.Gln456_Gly1012delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535086"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1305,
          "referenceAllele": "C",
          "start": 1304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "XM_024451518.1:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024307286.1:p.Gln88Ter",
        "hgvsWellDefined": "XP_024307286.1:p.Gln88_Gly644delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139670138",
      "coordinates": [
        {
          "allele": "T",
          "end": 1404,
          "referenceAllele": "C",
          "start": 1403
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_000528.4:c.1363C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000519.2:p.Gln455Ter",
        "hgvsWellDefined": "NP_000519.2:p.Gln455_Gly1011delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662473",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456935.7:c.1363C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000528.4:c.1363C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000395473.2:p.Gln455Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000519.2:p.Gln455Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826093148",
      "coordinates": [
        {
          "allele": "T",
          "end": 1401,
          "referenceAllele": "C",
          "start": 1400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006826",
      "geneNCBI_id": 4125,
      "geneSymbol": "MAN2B1",
      "hgvs": [
        "NM_001173498.2:c.1360C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001166969.1:p.Gln454Ter",
        "hgvsWellDefined": "NP_001166969.1:p.Gln454_Gly1010delinsHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713478"
    }
  ],
  "type": "nucleotide"
}