{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA150658", "communityStandardTitle": [ "NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=106655[alleleid]", "alleleId": 106655, "preferredName": "NM_012414.4(RAB3GAP2):c.3085G>T (p.Glu1029Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/100790", "RCV": [ "RCV000087153" ], "variationId": 100790 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.220340637C>A?assembly=hg19", "id": "chr1:g.220340637C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.220167295C>A?assembly=hg38", "id": "chr1:g.220167295C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/587777170", "rs": 587777170 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-220167295-C-A?dataset=gnomad_r4", "id": "1-220167295-C-A", "variant": "1:220167295 C / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 220167295, "referenceAllele": "C", "start": 220167294 } ], "hgvs": [ "NC_000001.11:g.220167295C>A", "CM000663.2:g.220167295C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 220340637, "referenceAllele": "C", "start": 220340636 } ], "hgvs": [ "NC_000001.10:g.220340637C>A", "CM000663.1:g.220340637C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 218407260, "referenceAllele": "C", "start": 218407259 } ], "hgvs": [ "NC_000001.9:g.218407260C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 110207, "referenceAllele": "G", "start": 110206 } ], "hgvs": [ "NG_015837.1:g.110207G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002869" }, { "coordinates": [ { "allele": "T", "end": 110207, "referenceAllele": "G", "start": 110206 } ], "hgvs": [ "NG_015837.2:g.110207G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS673647" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3124, "referenceAllele": "G", "start": 3123 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000685286.1:c.*414G>T" ], "proteinEffect": { "hgvs": "ENSP00000509457.1:n.*414G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829989" }, { "coordinates": [ { "allele": "T", "end": 3207, "referenceAllele": "G", "start": 3206 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000685664.1:c.3085G>T" ], "proteinEffect": { "hgvs": "ENSP00000509121.1:p.Glu1029Ter", "hgvsWellDefined": "ENSP00000509121.1:p.Glu1030_Ser1358delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetValSerThrIleGluArgAspGlnAlaLysGlyHisTrpMetPheSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830192" }, { "coordinates": [ { "allele": "T", "end": 3073, "referenceAllele": "G", "start": 3072 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000686381.1:c.2821G>T" ], "proteinEffect": { "hgvs": "ENSP00000509555.1:p.Glu941Ter", "hgvsWellDefined": "ENSP00000509555.1:p.Glu942_Leu1305delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830542" }, { "coordinates": [ { "allele": "T", "end": 3120, "referenceAllele": "G", "start": 3119 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000687065.1:c.2821G>T" ], "proteinEffect": { "hgvs": "ENSP00000510408.1:p.Glu941Ter", "hgvsWellDefined": "ENSP00000510408.1:p.Glu942_Leu1305delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS830886" }, { "coordinates": [ { "allele": "T", "end": 3191, "referenceAllele": "G", "start": 3190 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000687394.1:n.3191G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831063" }, { "coordinates": [ { "allele": "T", "end": 3113, "referenceAllele": "G", "start": 3112 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000687647.1:c.2821G>T" ], "proteinEffect": { "hgvs": "ENSP00000509205.1:p.Glu941Ter", "hgvsWellDefined": "ENSP00000509205.1:p.Glu942_Leu1305delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS831196" }, { "coordinates": [ { "allele": "T", "end": 3602, "referenceAllele": "G", "start": 3601 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000688035.1:n.3602G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS831402" }, { "coordinates": [ { "allele": "T", "end": 3132, "referenceAllele": "G", "start": 3131 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000690315.1:c.2986G>T" ], "proteinEffect": { "hgvs": "ENSP00000509834.1:p.Glu996Ter", "hgvsWellDefined": "ENSP00000509834.1:p.Glu997_Leu1360delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832645" }, { "coordinates": [ { "allele": "T", "end": 3424, "referenceAllele": "G", "start": 3423 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000690373.1:n.3424G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS832667" }, { "coordinates": [ { "allele": "T", "end": 3127, "referenceAllele": "G", "start": 3126 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000690824.1:c.3085G>T" ], "proteinEffect": { "hgvs": "ENSP00000510709.1:p.Glu1029Ter", "hgvsWellDefined": "ENSP00000510709.1:p.Glu1030_Leu1368delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS832895" }, { "coordinates": [ { "allele": "T", "end": 3164, "referenceAllele": "G", "start": 3163 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000691661.1:c.3097G>T" ], "proteinEffect": { "hgvs": "ENSP00000510185.1:p.Glu1033Ter", "hgvsWellDefined": "ENSP00000510185.1:p.Glu1034_Leu1397delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833318" }, { "coordinates": [ { "allele": "T", "end": 3050, "referenceAllele": "G", "start": 3049 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000691862.1:c.2983G>T" ], "proteinEffect": { "hgvs": "ENSP00000509291.1:p.Glu995Ter", "hgvsWellDefined": "ENSP00000509291.1:p.Glu996_Leu1359delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833419" }, { "coordinates": [ { "allele": "T", "end": 3177, "referenceAllele": "G", "start": 3176 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000692813.1:c.3085G>T" ], "proteinEffect": { "hgvs": "ENSP00000509080.1:p.Glu1029Ter", "hgvsWellDefined": "ENSP00000509080.1:p.Glu1030_Leu1381delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833902" }, { "coordinates": [ { "allele": "T", "end": 3320, "referenceAllele": "G", "start": 3319 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000692972.1:c.3160G>T" ], "proteinEffect": { "hgvs": "ENSP00000510753.1:p.Glu1054Ter", "hgvsWellDefined": "ENSP00000510753.1:p.Glu1055_Leu1418delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS833994" }, { "coordinates": [ { "allele": "T", "end": 3178, "referenceAllele": "G", "start": 3177 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000693602.1:n.3178G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS834328" }, { "coordinates": [ { "allele": "T", "end": 3201, "referenceAllele": "G", "start": 3200 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000358951.7:c.3085G>T" ], "proteinEffect": { "hgvs": "ENSP00000351832.2:p.Glu1029Ter", "hgvsWellDefined": "ENSP00000351832.2:p.Glu1030_Leu1393delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749139", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358951.7:c.3085G>T" }, "RefSeq": { "hgvs": "NM_012414.4:c.3085G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351832.2:p.Glu1029Ter" }, "RefSeq": { "hgvs": "NP_036546.2:p.Glu1029Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3202, "referenceAllele": "G", "start": 3201 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "ENST00000358951.6:c.3085G>T" ], "proteinEffect": { "hgvs": "ENSP00000351832.2:p.Glu1029Ter", "hgvsWellDefined": "ENSP00000351832.2:p.Glu1030_Leu1393delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264633" }, { "@id": "http://reg.genome.network/allele/PA150659", "coordinates": [ { "allele": "T", "end": 3249, "referenceAllele": "G", "start": 3248 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "NM_012414.3:c.3085G>T" ], "proteinEffect": { "hgvs": "NP_036546.2:p.Glu1029Ter", "hgvsWellDefined": "NP_036546.2:p.Glu1030_Leu1393delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS032571" }, { "@id": "http://reg.genome.network/allele/PA150659", "coordinates": [ { "allele": "T", "end": 3201, "referenceAllele": "G", "start": 3200 } ], "gene": "http://reg.genome.network/gene/GN017168", "geneNCBI_id": 25782, "geneSymbol": "RAB3GAP2", "hgvs": [ "NM_012414.4:c.3085G>T" ], "proteinEffect": { "hgvs": "NP_036546.2:p.Glu1029Ter", "hgvsWellDefined": "NP_036546.2:p.Glu1030_Leu1393delinsAlaArgPhePheValArgSerIleGluHisLeuLysGlnIlePheAsnAlaHisValGlnAsnGlyIleAlaLeuMetMetTrpAsnThrPheLeuValLysArgPheSerAlaAlaThrTyrLeuMetAspLysValGlyLysSerProLysAspArgLeuCysArgArgAspValGlyMetSerAspThrAlaMetThrSerPheLeuGlySerCysLeuAspLeuLeuGlnIleLeuMetGluAlaAspValSerArgAspGluIleGlnValProValLeuAspThrGluAspAlaTrpLeuSerValGluGlyProIleSerIleValGluLeuAlaLeuGluGlnLysHisIleHisTyrProLeuValGluHisHisSerIleLeuCysSerIleLeuTyrAlaValMetArgPheSerLeuLysThrValLysProLeuSerLeuPheAspSerLysGlyLysAsnAlaPhePheLysAspLeuThrSerIleGlnLeuLeuProSerGlyGluMetAspProAsnPheIleSerValArgGlnGlnPheLeuLeuLysValValSerAlaAlaValGlnAlaGlnHisSerAlaThrLysValLysAspProThrGluGluAlaThrProThrProPheGlyLysAspGlnAspTrpProAlaLeuAlaValAspLeuAlaHisHisLeuGlnValSerGluAspValValArgArgHisTyrValGlyGluLeuTyrAsnTyrGlyValAspHisLeuGlyGluGluAlaIleLeuGlnValHisAspLysGluValLeuAlaSerGlnLeuLeuValLeuThrGlyGlnArgLeuAlaHisAlaLeuLeuHisThrGlnThrLysGluGlyMetGluLeuLeuAlaArgLeuProProThrLeuCysThrTrpLeuLysAlaMetAspProGlnAspLeuGlnAsnThrGluValProIleAlaThrThrAlaLysLeuValAsnLysValIleGluLeuLeuProGluLysHisGlyGlnTyrGlyLeuAlaLeuHisLeuIleGluAlaValGluAlaIleSerLeuProSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS668036", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358951.7:c.3085G>T" }, "RefSeq": { "hgvs": "NM_012414.4:c.3085G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000351832.2:p.Glu1029Ter" }, "RefSeq": { "hgvs": "NP_036546.2:p.Glu1029Ter" } } } } ], "type": "nucleotide" }