{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3499187", "communityStandardTitle": [ "NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=231645[alleleid]", "alleleId": 231645, "preferredName": "NM_024577.4(SH3TC2):c.1384G>T (p.Glu462Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/234623", "RCV": [ "RCV000214436", "RCV000778757", "RCV000789720", "RCV001854739" ], "variationId": 234623 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/5-148407911-C-A", "id": "5-148407911-C-A", "variant": "5:148407911 C / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.148407911C>A?assembly=hg19", "id": "chr5:g.148407911C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr5:g.149028348C>A?assembly=hg38", "id": "chr5:g.149028348C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/749850181", "rs": 749850181 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-148407911-C-A?dataset=gnomad_r2_1", "id": "5-148407911-C-A", "variant": "5:148407911 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/5-149028348-C-A?dataset=gnomad_r4", "id": "5-149028348-C-A", "variant": "5:149028348 C / A" } ] }, "genomicAlleles": [ { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 149028348, "referenceAllele": "C", "start": 149028347 } ], "hgvs": [ "NC_000005.10:g.149028348C>A", "CM000667.2:g.149028348C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000053" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 148407911, "referenceAllele": "C", "start": 148407910 } ], "hgvs": [ "NC_000005.9:g.148407911C>A", "CM000667.1:g.148407911C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000029" }, { "chromosome": "5", "coordinates": [ { "allele": "A", "end": 148388104, "referenceAllele": "C", "start": 148388103 } ], "hgvs": [ "NC_000005.8:g.148388104C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000005" }, { "coordinates": [ { "allele": "T", "end": 39827, "referenceAllele": "G", "start": 39826 } ], "hgvs": [ "NG_007947.2:g.39827G>T", "LRG_269:g.39827G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000715" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1395, "endIntronDirection": "+", "endIntronOffset": 9, "referenceAllele": "G", "start": 1395, "startIntronDirection": "+", "startIntronOffset": 8 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000502274.2:c.1395+9G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS757928" }, { "coordinates": [ { "allele": "T", "end": 1424, "referenceAllele": "G", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000515425.6:c.1384G>T" ], "proteinEffect": { "hgvs": "ENSP00000423660.1:p.Glu462Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS758388", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000515425.6:c.1384G>T" }, "RefSeq": { "hgvs": "NM_024577.4:c.1384G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000423660.1:p.Glu462Ter" }, "RefSeq": { "hgvs": "NP_078853.2:p.Glu462Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1764, "referenceAllele": "G", "start": 1763 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000675793.1:c.*668G>T" ], "proteinEffect": { "hgvs": "ENSP00000502039.1:n.*668G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775564" }, { "coordinates": [ { "allele": "T", "end": 1628, "referenceAllele": "G", "start": 1627 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000676056.1:c.*894G>T" ], "proteinEffect": { "hgvs": "ENSP00000501827.1:n.*894G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS775794" }, { "coordinates": [ { "allele": "T", "end": 1478, "referenceAllele": "G", "start": 1477 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000323829.9:c.*772G>T" ], "proteinEffect": { "hgvs": "ENSP00000313025.5:n.*772G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS258259" }, { "coordinates": [ { "allele": "T", "end": 914, "referenceAllele": "G", "start": 913 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000504517.5:c.914G>T" ], "proteinEffect": { "hgvs": "ENSP00000421779.1:n.914G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS336558" }, { "coordinates": [ { "allele": "T", "end": 1525, "referenceAllele": "G", "start": 1524 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000504690.5:c.1384G>T" ], "proteinEffect": { "hgvs": "ENSP00000425627.1:p.Glu462Ter", "hgvsWellDefined": "ENSP00000425627.1:p.Glu463_Glu1259delinsAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysPheLeuLeuCysCysProGlyTrpSerSerValValGlnSerGlyLeuProAlaThrSerAspSerGlyAlaGlnValIleLeuGlnCysGlnProProGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336681" }, { "coordinates": [ { "allele": "T", "end": 434, "referenceAllele": "G", "start": 433 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000510779.1:c.434G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS341192" }, { "coordinates": [ { "allele": "T", "end": 1492, "referenceAllele": "G", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000511307.5:c.*1164G>T" ], "proteinEffect": { "hgvs": "ENSP00000421420.1:n.*1164G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS341603" }, { "coordinates": [ { "allele": "T", "end": 1430, "referenceAllele": "G", "start": 1429 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000512049.5:c.1363G>T" ], "proteinEffect": { "hgvs": "ENSP00000421860.1:p.Glu455Ter", "hgvsWellDefined": "ENSP00000421860.1:p.Glu456_Leu1281delinsAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS342171" }, { "coordinates": [ { "allele": "T", "end": 1481, "referenceAllele": "G", "start": 1480 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000513604.5:c.*772G>T" ], "proteinEffect": { "hgvs": "ENSP00000423111.1:n.*772G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS343306" }, { "coordinates": [ { "allele": "T", "end": 1486, "referenceAllele": "G", "start": 1485 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "ENST00000515425.5:c.1384G>T" ], "proteinEffect": { "hgvs": "ENSP00000423660.1:p.Glu462Ter", "hgvsWellDefined": "ENSP00000423660.1:p.Glu463_Leu1288delinsAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS344659" }, { "@id": "http://reg.genome.network/allele/PA645414197", "coordinates": [ { "allele": "T", "end": 1536, "referenceAllele": "G", "start": 1535 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "NM_024577.3:c.1384G>T", "LRG_269t1:c.1384G>T" ], "proteinEffect": { "hgvs": "NP_078853.2:p.Glu462Ter", "hgvsWellDefined": "NP_078853.2:p.Glu463_Leu1288delinsAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037837" }, { "@id": "http://reg.genome.network/allele/PA645414197", "coordinates": [ { "allele": "T", "end": 1424, "referenceAllele": "G", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN029427", "geneNCBI_id": 79628, "geneSymbol": "SH3TC2", "hgvs": [ "NM_024577.4:c.1384G>T" ], "proteinEffect": { "hgvs": "NP_078853.2:p.Glu462Ter", "hgvsWellDefined": "NP_078853.2:p.Glu463_Leu1288delinsAlaGluAsnPheAlaProIleLeuAlaPheLeuAspHisGluGlyTyrAlaAspHisPheLysSerLeuTyrAspPheSerPheSerPheLeuThrSerSerPheTyrSerPheSerGluGluAspGluPheValAlaTyrLeuGluAlaSerArgLysTrpAlaLysLysSerHisMetThrTrpAlaHisAlaArgLeuCysPheLeuLeuGlyArgLeuSerIleArgLysValLysLeuSerGlnAlaArgValTyrPheGluGluAlaIleHisIleLeuAsnGlyAlaPheGluAspLeuSerLeuValAlaThrLeuTyrIleAsnLeuAlaAlaIleTyrLeuLysGlnArgLeuArgHisLysGlySerAlaLeuLeuGluLysAlaGlyAlaLeuLeuAlaCysLeuProAspArgGluSerSerAlaLysHisGluLeuAspValValAlaTyrValLeuArgGlnGlyIleValValGlySerSerProLeuGluAlaArgAlaCysPheLeuAlaIleArgLeuLeuLeuSerLeuGlyArgHisGluGluValLeuProPheAlaGluArgLeuGlnLeuLeuSerGlyHisProProAlaSerGluAlaValAlaSerValLeuSerPheLeuTyrAspLysLysTyrLeuProHisLeuAlaValAlaSerValGlnGlnHisGlyIleGlnSerAlaGlnGlyMetSerLeuProIleTrpGlnValHisLeuValLeuGlnAsnThrThrLysLeuLeuGlyPheProSerProGlyTrpGlyGluValSerAlaLeuAlaCysProMetLeuArgGlnAlaLeuAlaAlaCysGluGluLeuAlaAspArgSerThrGlnArgAlaLeuCysLeuIleLeuSerLysValTyrLeuGluHisArgSerProAspGlyAlaIleHisTyrLeuSerGlnAlaLeuValLeuGlyGlnLeuLeuGlyGluGlnGluSerPheGluSerSerLeuCysLeuAlaTrpAlaTyrLeuLeuAlaSerGlnAlaLysLysAlaLeuAspValLeuGluProLeuLeuCysSerLeuLysGluThrGluSerLeuThrGlnArgGlyValIleTyrAsnLeuLeuGlyLeuAlaLeuGlnGlyGluGlyArgValAsnArgAlaAlaLysSerTyrLeuArgAlaLeuAsnArgAlaGlnGluValGlyAspValHisAsnGlnAlaValAlaMetAlaAsnLeuGlyHisLeuSerLeuLysSerTrpAlaGlnHisProAlaArgAsnTyrLeuLeuGlnAlaValArgLeuTyrCysGluLeuGlnAlaSerLysGluThrAspMetGluLeuValGlnValPheLeuTrpLeuAlaGlnValLeuValSerGlyHisGlnLeuThrHisGlyLeuLeuCysTyrGluMetAlaLeuLeuPheGlyLeuArgHisArgHisLeuLysSerGlnLeuGlnAlaThrLysSerLeuCysHisPheTyrSerSerValSerProAsnProGluAlaCysIleThrTyrHisGluHisTrpLeuAlaLeuAlaGlnGlnLeuArgAspArgGluMetGluGlyArgLeuLeuGluSerLeuGlyGlnLeuTyrArgAsnLeuAsnThrAlaArgSerLeuArgArgSerLeuThrCysIleLysGluSerLeuArgIlePheIleAspLeuGlyGluThrAspLysAlaAlaGluAlaTrpLeuGlyAlaGlyArgLeuHisTyrLeuMetGlnGluAspGluLeuValGluLeuCysLeuGlnAlaAlaIleGlnThrAlaLeuLysSerGluGluProLeuLeuAlaLeuLysLeuTyrGluGluAlaGlyAspValPhePheAsnGlyThrArgHisArgHisHisAlaValGluTyrTyrArgAlaGlyAlaValProLeuAlaArgArgLeuLysAlaValArgThrGluLeuArgIlePheAsnLysLeuThrGluLeuGlnIleSerLeuGluGlyTyrGluLysAlaLeuGluPheAlaThrLeuAlaAlaArgLeuSerThrValThrGlyAspGlnArgGlnGluLeuValAlaPheHisArgLeuAlaThrValTyrTyrSerLeuHisMetTyrGluMetAlaGluAspCysTyrLeuLysThrLeuSerLeuCysProProTrpLeuGlnSerProLysGluAlaLeuTyrTyrAlaLysValTyrTyrArgLeuGlyArgLeuThrPheCysGlnLeuLysAspAlaHisAspAlaThrGluTyrPheLeuLeuAlaLeuAlaAlaAlaValLeuLeuGlyAspGluGluLeuGlnAspThrIleArgSerArgLeuAspAsnIleCysGlnSerProLeuTrpHisSerArgProSerGlyCysSerSerGluArgAlaArgTrpLeuSerGlyGlyGlyLeuAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698719", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000515425.6:c.1384G>T" }, "RefSeq": { "hgvs": "NM_024577.4:c.1384G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000423660.1:p.Glu462Ter" }, "RefSeq": { "hgvs": "NP_078853.2:p.Glu462Ter" } } } } ], "type": "nucleotide" }