{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA150654", "communityStandardTitle": [ "NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106653[alleleid]", "alleleId": 106653, "preferredName": "NM_012414.4(RAB3GAP2):c.1434G>A (p.Trp478Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100788", "RCV": [ "RCV000087151" ], "variationId": 100788 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.220364463C>T?assembly=hg19", "id": "chr1:g.220364463C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.220191121C>T?assembly=hg38", "id": "chr1:g.220191121C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777168", "rs": 587777168 } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 220191121, "referenceAllele": "C", "start": 220191120 } ], "hgvs": [ "NC_000001.11:g.220191121C>T", "CM000663.2:g.220191121C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 220364463, "referenceAllele": "C", "start": 220364462 } ], "hgvs": [ "NC_000001.10:g.220364463C>T", "CM000663.1:g.220364463C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "T", "end": 218431086, "referenceAllele": "C", "start": 218431085 } ], "hgvs": [ "NC_000001.9:g.218431086C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "A", "end": 86381, "referenceAllele": "G", "start": 86380 } ], "hgvs": [ "NG_015837.1:g.86381G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002869" }, { "coordinates": [ { "allele": "A", "end": 86381, "referenceAllele": "G", "start": 86380 } ], "hgvs": [ "NG_015837.2:g.86381G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673647" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000685286.1:c.1434G>A" ], "proteinEffect": { "hgvs": "ENSP00000509457.1:p.Trp478Ter", "hgvsWellDefined": "ENSP00000509457.1:p.Trp478_Phe885delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheTrpValLeuIleGlnArgProSerLeuIleProGlyArgHisPheLeuLeuThrLeuSerThrGlyAsnSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829989" }, { "coordinates": [ { "allele": "A", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000685664.1:c.1434G>A" ], "proteinEffect": { "hgvs": "ENSP00000509121.1:p.Trp478Ter", "hgvsWellDefined": "ENSP00000509121.1:p.Trp478_Ser1358delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetValSerThrIleGluArgAspGlnAlaLysGlyHisTrpMetPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830192" }, { "coordinates": [ { "allele": "A", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000686381.1:c.1170G>A" ], "proteinEffect": { "hgvs": "ENSP00000509555.1:p.Trp390Ter", "hgvsWellDefined": "ENSP00000509555.1:p.Trp390_Leu1305delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830542" }, { "coordinates": [ { "allele": "A", "end": 1469, "referenceAllele": "G", "start": 1468 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000687065.1:c.1170G>A" ], "proteinEffect": { "hgvs": "ENSP00000510408.1:p.Trp390Ter", "hgvsWellDefined": "ENSP00000510408.1:p.Trp390_Leu1305delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830886" }, { "coordinates": [ { "allele": "A", "end": 1540, "referenceAllele": "G", "start": 1539 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000687394.1:n.1540G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831063" }, { "coordinates": [ { "allele": "A", "end": 1462, "referenceAllele": "G", "start": 1461 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000687647.1:c.1170G>A" ], "proteinEffect": { "hgvs": "ENSP00000509205.1:p.Trp390Ter", "hgvsWellDefined": "ENSP00000509205.1:p.Trp390_Leu1305delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831196" }, { "coordinates": [ { "allele": "A", "end": 1849, "referenceAllele": "G", "start": 1848 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000688035.1:n.1849G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS831402" }, { "coordinates": [ { "allele": "A", "end": 1481, "referenceAllele": "G", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000690315.1:c.1335G>A" ], "proteinEffect": { "hgvs": "ENSP00000509834.1:p.Trp445Ter", "hgvsWellDefined": "ENSP00000509834.1:p.Trp445_Leu1360delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832645" }, { "coordinates": [ { "allele": "A", "end": 1773, "referenceAllele": "G", "start": 1772 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000690373.1:n.1773G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832667" }, { "coordinates": [ { "allele": "A", "end": 1464, "referenceAllele": "G", "start": 1463 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000690379.1:n.1464G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS832671" }, { "coordinates": [ { "allele": "A", "end": 1476, "referenceAllele": "G", "start": 1475 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000690824.1:c.1434G>A" ], "proteinEffect": { "hgvs": "ENSP00000510709.1:p.Trp478Ter", "hgvsWellDefined": "ENSP00000510709.1:p.Trp478_Leu1368delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832895" }, { "coordinates": [ { "allele": "A", "end": 1513, "referenceAllele": "G", "start": 1512 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000691661.1:c.1446G>A" ], "proteinEffect": { "hgvs": "ENSP00000510185.1:p.Trp482Ter", "hgvsWellDefined": "ENSP00000510185.1:p.Trp482_Leu1397delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833318" }, { "coordinates": [ { "allele": "A", "end": 1399, "referenceAllele": "G", "start": 1398 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000691862.1:c.1332G>A" ], "proteinEffect": { "hgvs": "ENSP00000509291.1:p.Trp444Ter", "hgvsWellDefined": "ENSP00000509291.1:p.Trp444_Leu1359delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833419" }, { "coordinates": [ { "allele": "A", "end": 1526, "referenceAllele": "G", "start": 1525 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000692813.1:c.1434G>A" ], "proteinEffect": { "hgvs": "ENSP00000509080.1:p.Trp478Ter", "hgvsWellDefined": "ENSP00000509080.1:p.Trp478_Leu1381delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833902" }, { "coordinates": [ { "allele": "A", "end": 1669, "referenceAllele": "G", "start": 1668 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000692972.1:c.1509G>A" ], "proteinEffect": { "hgvs": "ENSP00000510753.1:p.Trp503Ter", "hgvsWellDefined": "ENSP00000510753.1:p.Trp503_Leu1418delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833994" }, { "coordinates": [ { "allele": "A", "end": 644, "referenceAllele": "G", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000693454.1:n.644G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834255" }, { "coordinates": [ { "allele": "A", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000693602.1:n.1527G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS834328" }, { "coordinates": [ { "allele": "A", "end": 1550, "referenceAllele": "G", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000358951.7:c.1434G>A" ], "proteinEffect": { "hgvs": "ENSP00000351832.2:p.Trp478Ter", "hgvsWellDefined": "ENSP00000351832.2:p.Trp478_Leu1393delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749139", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358951.7:c.1434G>A" }, "RefSeq": { "hgvs": "NM_012414.4:c.1434G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351832.2:p.Trp478Ter" }, "RefSeq": { "hgvs": "NP_036546.2:p.Trp478Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1551, "referenceAllele": "G", "start": 1550 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000358951.6:c.1434G>A" ], "proteinEffect": { "hgvs": "ENSP00000351832.2:p.Trp478Ter", "hgvsWellDefined": "ENSP00000351832.2:p.Trp478_Leu1393delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264633" }, { "coordinates": [ { "allele": "A", "end": 291, "endIntronDirection": "-", "endIntronOffset": 695, "referenceAllele": "G", "start": 291, "startIntronDirection": "-", "startIntronOffset": 696 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000478976.1:n.292-696G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS319460" }, { "@id": "http://reg.genome.network/allele/PA150655", "coordinates": [ { "allele": "A", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "NM_012414.3:c.1434G>A" ], "proteinEffect": { "hgvs": "NP_036546.2:p.Trp478Ter", "hgvsWellDefined": "NP_036546.2:p.Trp478_Leu1393delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032571" }, { "@id": "http://reg.genome.network/allele/PA150655", "coordinates": [ { "allele": "A", "end": 1550, "referenceAllele": "G", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "NM_012414.4:c.1434G>A" ], "proteinEffect": { "hgvs": "NP_036546.2:p.Trp478Ter", "hgvsWellDefined": "NP_036546.2:p.Trp478_Leu1393delinsSerThrGlnGlnGlyProArgValGlyAlaPheAsnValGlyLysHisCysArgLeuLeuTyrProGlyTyrLysIleMetGlyLeuAsnAsnValThrSerGlnSerTrpGlnProGlnThrTyrGlnIleCysLeuValAspProValSerGlySerValLysThrValAsnValProPheHisLeuAlaLeuSerAspLysLysSerGluArgAlaLysAspMetHisLeuValLysLysLeuAlaAlaLeuLeuLysThrLysSerProAsnLeuAspLeuValGluThrGluIleLysGluLeuIleLeuAspIleLysTyrProAlaThrLysLysGlnAlaLeuGluSerIleLeuAlaSerGluArgLeuProPheSerCysLeuArgAsnIleThrGlnThrLeuMetAspThrLeuLysSerGlnGluLeuGluSerValAspGluGlyLeuLeuGlnPheCysAlaAsnLysLeuLysLeuLeuGlnLeuTyrGluSerValSerGlnLeuAsnSerLeuAspPheHisLeuAspThrProPheSerAspAsnAspLeuAlaLeuLeuLeuArgLeuAspGluLysGluLeuLeuLysLeuGlnAlaLeuLeuGluLysTyrLysGlnGluAsnThrArgThrAsnValArgPheSerAspAspLysAspGlyValLeuProValLysThrPheLeuGluTyrLeuGluTyrGluLysAspValLeuAsnIleLysLysIleSerGluGluGluTyrValAlaLeuGlySerPhePhePheTrpLysCysLeuHisGlyGluSerSerThrGluAspMetCysHisThrLeuGluSerAlaGlyLeuSerProGlnLeuLeuLeuSerLeuLeuLeuSerValTrpLeuSerLysGluLysAspIleLeuAspLysProGlnSerIleCysCysLeuHisThrMetLeuSerLeuLeuSerLysMetLysValAlaIleAspGluThrTrpAspSerGlnSerValSerProTrpTrpGlnGlnMetArgThrAlaCysIleGlnSerGluAsnAsnGlyAlaAlaLeuLeuSerAlaHisValGlyHisSerValAlaAlaGlnIleSerAsnAsnMetThrGluLysLysPheSerGlnThrValLeuGlyAlaAspSerGluAlaLeuThrAspSerTrpGluAlaLeuSerLeuAspThrGluTyrTrpLysLeuLeuLeuLysGlnLeuGluAspCysLeuIleLeuGlnThrLeuLeuHisSerLysGlyAsnThrGlnThrSerLysValSerSerLeuGlnAlaGluProLeuProArgLeuSerValLysLysLeuLeuGluGlyGlyLysGlyGlyIleAlaAspSerValAlaLysTrpIlePheLysGlnAspPheSerProGluValLeuLysLeuAlaAsnGluGluArgAspAlaGluAsnProAspGluProLysGluGlyValAsnArgSerPheLeuGluValSerGluMetGluMetAspLeuGlyAlaIleProAspLeuLeuHisLeuAlaTyrGluGlnPheProCysSerLeuGluLeuAspValLeuHisAlaHisCysCysTrpGluTyrValValGlnTrpAsnLysAspProGluGluAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668036", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358951.7:c.1434G>A" }, "RefSeq": { "hgvs": "NM_012414.4:c.1434G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351832.2:p.Trp478Ter" }, "RefSeq": { "hgvs": "NP_036546.2:p.Trp478Ter" } } } } ], "type": "nucleotide" }