{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA404256264", "communityStandardTitle": [ "NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488314[alleleid]", "alleleId": 488314, "preferredName": "NM_000528.4(MAN2B1):c.384G>A (p.Trp128Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/496890", "RCV": [ "RCV000594878", "RCV001775912" ], "variationId": 496890 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12776218C>T?assembly=hg19", "id": "chr19:g.12776218C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr19:g.12665404C>T?assembly=hg38", "id": "chr19:g.12665404C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1555709972", "rs": 1555709972 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/19-12665404-C-T?dataset=gnomad_r4", "id": "19-12665404-C-T", "variant": "19:12665404 C / T" } ] }, "genomicAlleles": [ { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12665404, "referenceAllele": "C", "start": 12665403 } ], "hgvs": [ "NC_000019.10:g.12665404C>T", "CM000681.2:g.12665404C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000067" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12776218, "referenceAllele": "C", "start": 12776217 } ], "hgvs": [ "NC_000019.9:g.12776218C>T", "CM000681.1:g.12776218C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000043" }, { "chromosome": "19", "coordinates": [ { "allele": "T", "end": 12637218, "referenceAllele": "C", "start": 12637217 } ], "hgvs": [ "NC_000019.8:g.12637218C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000019" }, { "coordinates": [ { "allele": "A", "end": 6374, "referenceAllele": "G", "start": 6373 } ], "hgvs": [ "NG_008318.1:g.6374G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001025" }, { "coordinates": [ { "allele": "T", "end": 3601, "referenceAllele": "C", "start": 3600 } ], "hgvs": [ "NG_015814.1:g.3601C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002846" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000456935.7:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000395473.2:p.Trp128Ter", "hgvsWellDefined": "ENSP00000395473.2:p.Trp128_Gly1011delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS756575", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456935.7:c.384G>A" }, "RefSeq": { "hgvs": "NM_000528.4:c.384G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395473.2:p.Trp128Ter" }, "RefSeq": { "hgvs": "NP_000519.2:p.Trp128Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 417, "referenceAllele": "G", "start": 416 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000221363.8:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000221363.4:p.Trp128Ter", "hgvsWellDefined": "ENSP00000221363.4:p.Trp128_Gly1010delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS248273" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000456935.6:c.384G>A" ], "proteinEffect": { "hgvs": "ENSP00000395473.2:p.Trp128Ter", "hgvsWellDefined": "ENSP00000395473.2:p.Trp128_Gly1011delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS303709" }, { "coordinates": [ { "allele": "A", "end": 366, "referenceAllele": "G", "start": 365 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000466794.5:n.366G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS310063" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000486847.2:c.281G>A" ], "proteinEffect": { "hgvs": "ENSP00000470174.1:p.Gly94Asp", "hgvsWellDefined": "ENSP00000470174.1:p.Gly94Asp" }, "referenceSequence": "http://reg.genome.network/refseq/RS325552" }, { "coordinates": [ { "allele": "A", "end": 322, "referenceAllele": "G", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000596512.5:n.322G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS395556" }, { "coordinates": [ { "allele": "A", "end": 375, "referenceAllele": "G", "start": 374 } ], "hgvs": [ "ENST00000597961.1:c.375G>A" ], "proteinEffect": { "hgvs": "ENSP00000472710.1:p.Trp125Ter", "hgvsWellDefined": "ENSP00000472710.1:p.Trp125_Phe195del" }, "referenceSequence": "http://reg.genome.network/refseq/RS396190" }, { "coordinates": [ { "allele": "A", "end": 446, "referenceAllele": "G", "start": 445 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000598876.1:c.411G>A" ], "proteinEffect": { "hgvs": "ENSP00000470533.1:p.Trp137Ter", "hgvsWellDefined": "ENSP00000470533.1:p.Trp137_Thr172del" }, "referenceSequence": "http://reg.genome.network/refseq/RS396597" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "ENST00000600281.1:n.425G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS397212" }, { "@id": "http://reg.genome.network/allele/PA658804506", "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "G", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "NM_000528.3:c.384G>A" ], "proteinEffect": { "hgvs": "NP_000519.2:p.Trp128Ter", "hgvsWellDefined": "NP_000519.2:p.Trp128_Gly1011delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006585" }, { "@id": "http://reg.genome.network/allele/PA915993231", "coordinates": [ { "allele": "A", "end": 460, "referenceAllele": "G", "start": 459 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "NM_001173498.1:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001166969.1:p.Trp128Ter", "hgvsWellDefined": "NP_001166969.1:p.Trp128_Gly1010delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015607" }, { "coordinates": [ { "allele": "A", "end": 438, "referenceAllele": "G", "start": 437 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "XM_005259913.1:c.384G>A" ], "proteinEffect": { "hgvs": "XP_005259970.1:p.Trp128Ter", "hgvsWellDefined": "XP_005259970.1:p.Trp128_Gly1012delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS062591" }, { "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "XM_005259913.2:c.384G>A" ], "proteinEffect": { "hgvs": "XP_005259970.1:p.Trp128Ter", "hgvsWellDefined": "XP_005259970.1:p.Trp128_Gly1012delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS535086" }, { "coordinates": [ { "allele": "A", "end": 409, "referenceAllele": "G", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "XM_024451518.1:c.-635G>A" ], "proteinEffect": { "hgvs": "XP_024307286.1:n.-635G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS585031" }, { "@id": "http://reg.genome.network/allele/PA658804506", "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "NM_000528.4:c.384G>A" ], "proteinEffect": { "hgvs": "NP_000519.2:p.Trp128Ter", "hgvsWellDefined": "NP_000519.2:p.Trp128_Gly1011delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662473", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000456935.7:c.384G>A" }, "RefSeq": { "hgvs": "NM_000528.4:c.384G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000395473.2:p.Trp128Ter" }, "RefSeq": { "hgvs": "NP_000519.2:p.Trp128Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915993231", "coordinates": [ { "allele": "A", "end": 425, "referenceAllele": "G", "start": 424 } ], "gene": "http://reg.genome.network/gene/GN006826", "geneNCBI_id": 4125, "geneSymbol": "MAN2B1", "hgvs": [ "NM_001173498.2:c.384G>A" ], "proteinEffect": { "hgvs": "NP_001166969.1:p.Trp128Ter", "hgvsWellDefined": "NP_001166969.1:p.Trp128_Gly1010delinsHisGlnGlnThrAsnAlaThrGlnGluValValArgAspLeuValArgGlnGlyArgLeuGluPheAlaAsnGlyGlyTrpValMetAsnAspGluAlaAlaThrHisTyrGlyAlaIleValAspGlnMetThrLeuGlyLeuArgPheLeuGluAspThrPheGlyAsnAspGlyArgProArgValAlaTrpHisIleAspProPheGlyHisSerArgGluGlnAlaSerLeuPheAlaGlnMetGlyPheAspGlyPhePhePheGlyArgLeuAspTyrGlnAspLysTrpValArgMetGlnLysLeuGluMetGluGlnValTrpArgAlaSerThrSerLeuLysProProThrAlaAspLeuPheThrGlyValLeuProAsnGlyTyrAsnProProArgAsnLeuCysTrpAspValLeuCysValAspGlnProLeuValGluAspProArgSerProGluTyrAsnAlaLysGluLeuValAspTyrPheLeuAsnValAlaThrAlaGlnGlyArgTyrTyrArgThrAsnHisThrValMetThrMetGlySerAspPheGlnTyrGluAsnAlaAsnMetTrpPheLysAsnLeuAspLysLeuIleArgLeuValAsnAlaGlnAlaLysGlySerSerValHisValLeuTyrSerThrProAlaCysTyrLeuTrpGluLeuAsnLysAlaAsnLeuThrTrpSerValLysHisAspAspPhePheProTyrAlaAspGlyProHisGlnPheTrpThrGlyTyrPheSerSerArgProAlaLeuLysArgTyrGluArgLeuSerTyrAsnPheLeuGlnValCysAsnGlnLeuGluAlaLeuValGlyLeuAlaAlaAsnValGlyProTyrGlySerGlyAspSerAlaProLeuAsnGluAlaMetAlaValLeuGlnHisHisAspAlaValSerGlyThrSerArgGlnHisValAlaAsnAspTyrAlaArgGlnLeuAlaAlaGlyTrpGlyProCysGluValLeuLeuSerAsnAlaLeuAlaArgLeuArgGlyPheLysAspHisPheThrPheCysGlnGlnLeuAsnIleSerIleCysProLeuSerGlnThrAlaAlaArgPheGlnValIleValTyrAsnProLeuGlyArgLysValAsnTrpMetValArgLeuProValSerGluGlyValPheValValLysAspProAsnGlyArgThrValProSerAspValValIlePheProSerSerAspSerGlnAlaHisProProGluLeuLeuPheSerAlaSerLeuProAlaLeuGlyPheSerThrTyrSerValAlaGlnValProArgTrpLysProGlnAlaArgAlaProGlnProIleProArgArgSerTrpSerProAlaLeuThrIleGluAsnGluHisIleArgAlaThrPheAspProAspThrGlyLeuLeuMetGluIleMetAsnMetAsnGlnGlnLeuLeuLeuProValArgGlnThrPhePheTrpTyrAsnAlaSerIleGlyAspAsnGluSerAspGlnAlaSerGlyAlaTyrIlePheArgProAsnGlnGlnLysProLeuProValSerArgTrpAlaGlnIleHisLeuValLysThrProLeuValGlnGluValHisGlnAsnPheSerAlaTrpCysSerGlnValValArgLeuTyrProGlyGlnArgHisLeuGluLeuGluTrpSerValGlyProIleProValGlyAspThrTrpGlyLysGluValIleSerArgPheAspThrProLeuGluThrLysGlyArgPheTyrThrAspSerAsnGlyArgGluIleLeuGluArgArgArgAspTyrArgProThrTrpLysLeuAsnGlnThrGluProValAlaGlyAsnTyrTyrProValAsnThrArgIleTyrIleThrAspGlyAsnMetGlnLeuThrValLeuThrAspArgSerGlnGlyGlySerSerLeuArgAspGlySerLeuGluLeuMetValHisArgArgLeuLeuLysAspAspGlyArgGlyValSerGluProLeuMetGluAsnGlySerGlyAlaTrpValArgGlyArgHisLeuValLeuLeuAspThrAlaGlnAlaAlaAlaAlaGlyHisArgLeuLeuAlaGluGlnGluValLeuAlaProGlnValValLeuAlaProGlyGlyGlyAlaAlaTyrAsnLeuGlyAlaProProArgThrGlnPheSerGlyLeuArgArgAspLeuProProSerValHisLeuLeuThrLeuAlaSerTrpGlyProGluMetValLeuLeuArgLeuGluHisGlnPheAlaValGlyGluAspSerGlyArgAsnLeuSerAlaProValThrLeuAsnLeuArgAspLeuPheSerThrPheThrIleThrArgLeuGlnGluThrThrLeuValAlaAsnGlnLeuArgGluAlaAlaSerArgLeuLysTrpThrThrAsnThrGlyProThrProHisGlnThrProTyrGlnLeuAspProAlaAsnIleThrLeuGluProMetGluIleArgThrPheLeuAlaSerValGlnTrpLysGluValAspGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713478" } ], "type": "nucleotide" }