{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356155189", "communityStandardTitle": [ "NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1694106", "active": true, "id": "COSM1694106" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4681888", "active": true, "id": "COSM4681888" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=974484[alleleid]", "alleleId": 974484, "preferredName": "NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/986352", "RCV": [ "RCV001267667", "RCV001386726" ], "variationId": 986352 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5586574G>A?assembly=hg19", "id": "chr4:g.5586574G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5584847G>A?assembly=hg38", "id": "chr4:g.5584847G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1301855639", "rs": 1301855639 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5586574-G-A?dataset=gnomad_r2_1", "id": "4-5586574-G-A", "variant": "4:5586574 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5584847-G-A?dataset=gnomad_r3", "id": "4-5584847-G-A", "variant": "4:5584847 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5584847-G-A?dataset=gnomad_r4", "id": "4-5584847-G-A", "variant": "4:5584847 G / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 5584847, "referenceAllele": "G", "start": 5584846 } ], "hgvs": [ "NC_000004.12:g.5584847G>A", "CM000666.2:g.5584847G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 5586574, "referenceAllele": "G", "start": 5586573 } ], "hgvs": [ "NC_000004.11:g.5586574G>A", "CM000666.1:g.5586574G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 5637475, "referenceAllele": "G", "start": 5637474 } ], "hgvs": [ "NC_000004.10:g.5637475G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "T", "end": 129702, "referenceAllele": "C", "start": 129701 } ], "hgvs": [ "NG_015821.1:g.129702C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS002853" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2879, "referenceAllele": "C", "start": 2878 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000344408.10:c.2833C>T" ], "proteinEffect": { "hgvs": "ENSP00000342144.5:p.Arg945Ter", "hgvsWellDefined": "ENSP00000342144.5:p.Arg945_Asp1308delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748212", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344408.10:c.2833C>T" }, "RefSeq": { "hgvs": "NM_147127.5:c.2833C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342144.5:p.Arg945Ter" }, "RefSeq": { "hgvs": "NP_667338.3:p.Arg945Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 3325, "referenceAllele": "C", "start": 3324 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000310917.6:c.2593C>T" ], "proteinEffect": { "hgvs": "ENSP00000311683.2:p.Arg865Ter", "hgvsWellDefined": "ENSP00000311683.2:p.Arg865_Asp1228delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256435" }, { "coordinates": [ { "allele": "T", "end": 2887, "referenceAllele": "C", "start": 2886 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000344408.9:c.2833C>T" ], "proteinEffect": { "hgvs": "ENSP00000342144.5:p.Arg945Ter", "hgvsWellDefined": "ENSP00000342144.5:p.Arg945_Asp1308delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261966" }, { "coordinates": [ { "allele": "T", "end": 3325, "referenceAllele": "C", "start": 3324 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000475313.5:c.2593C>T" ], "proteinEffect": { "hgvs": "ENSP00000431981.1:p.Arg865Ter", "hgvsWellDefined": "ENSP00000431981.1:p.Arg865_Lys1166delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgSerGlyAsnGlnGluSerPheTrpGlnTyrLeuValGlyThrProGluIleGlyLeuIleGluTrpMetSerGluLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS316623" }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000509670.1:c.*1226C>T" ], "proteinEffect": { "hgvs": "ENSP00000423876.1:n.*1226C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS340384" }, { "@id": "http://reg.genome.network/allele/PA2826025686", "coordinates": [ { "allele": "T", "end": 3325, "referenceAllele": "C", "start": 3324 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_001166136.1:c.2593C>T" ], "proteinEffect": { "hgvs": "NP_001159608.1:p.Arg865Ter", "hgvsWellDefined": "NP_001159608.1:p.Arg865_Asp1228delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014807" }, { "@id": "http://reg.genome.network/allele/PA1139746901", "coordinates": [ { "allele": "T", "end": 2887, "referenceAllele": "C", "start": 2886 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_147127.4:c.2833C>T" ], "proteinEffect": { "hgvs": "NP_667338.3:p.Arg945Ter", "hgvsWellDefined": "NP_667338.3:p.Arg945_Asp1308delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS041593" }, { "coordinates": [ { "allele": "T", "end": 2895, "referenceAllele": "C", "start": 2894 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513392.1:c.2842C>T" ], "proteinEffect": { "hgvs": "XP_011511694.1:p.Arg948Ter", "hgvsWellDefined": "XP_011511694.1:p.Arg948_Asp1311delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080644" }, { "coordinates": [ { "allele": "T", "end": 2895, "referenceAllele": "C", "start": 2894 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513393.1:c.2842C>T" ], "proteinEffect": { "hgvs": "XP_011511695.1:p.Arg948Ter", "hgvsWellDefined": "XP_011511695.1:p.Arg948_Gly1248delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnArgCysTyrAlaLysCysGlnThrThrValAsnCysArgGlyLysThrArgValSerGluLeuPheHisArgTrpGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080645" }, { "coordinates": [ { "allele": "T", "end": 2785, "referenceAllele": "C", "start": 2784 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_011513394.1:c.2602C>T" ], "proteinEffect": { "hgvs": "XP_011511696.1:p.Arg868Ter", "hgvsWellDefined": "XP_011511696.1:p.Arg868_Asp1231delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS080646" }, { "coordinates": [ { "allele": "T", "end": 2876, "referenceAllele": "C", "start": 2875 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007736.1:c.2593C>T" ], "proteinEffect": { "hgvs": "XP_016863225.1:p.Arg865Ter", "hgvsWellDefined": "XP_016863225.1:p.Arg865_Asp1228delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562408" }, { "coordinates": [ { "allele": "T", "end": 2763, "referenceAllele": "C", "start": 2762 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007737.1:c.2593C>T" ], "proteinEffect": { "hgvs": "XP_016863226.1:p.Arg865Ter", "hgvsWellDefined": "XP_016863226.1:p.Arg865_Asp1228delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562409" }, { "coordinates": [ { "allele": "T", "end": 2898, "referenceAllele": "C", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007738.1:c.2833C>T" ], "proteinEffect": { "hgvs": "XP_016863227.1:p.Arg945Ter", "hgvsWellDefined": "XP_016863227.1:p.Arg945_Gln1090delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562410" }, { "coordinates": [ { "allele": "T", "end": 2921, "referenceAllele": "C", "start": 2920 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007739.1:c.1153C>T" ], "proteinEffect": { "hgvs": "XP_016863228.1:p.Arg385Ter", "hgvsWellDefined": "XP_016863228.1:p.Arg385_Asp748delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562411" }, { "coordinates": [ { "allele": "T", "end": 2673, "referenceAllele": "C", "start": 2672 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_024453893.1:c.1153C>T" ], "proteinEffect": { "hgvs": "XP_024309661.1:p.Arg385Ter", "hgvsWellDefined": "XP_024309661.1:p.Arg385_Asp748delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587265" }, { "coordinates": [ { "allele": "T", "end": 2898, "referenceAllele": "C", "start": 2897 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XR_001741141.1:n.2898C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS591184" }, { "@id": "http://reg.genome.network/allele/PA1139746901", "coordinates": [ { "allele": "T", "end": 2879, "referenceAllele": "C", "start": 2878 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_147127.5:c.2833C>T" ], "proteinEffect": { "hgvs": "NP_667338.3:p.Arg945Ter", "hgvsWellDefined": "NP_667338.3:p.Arg945_Asp1308delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672229", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344408.10:c.2833C>T" }, "RefSeq": { "hgvs": "NM_147127.5:c.2833C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342144.5:p.Arg945Ter" }, "RefSeq": { "hgvs": "NP_667338.3:p.Arg945Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826025686", "coordinates": [ { "allele": "T", "end": 3325, "referenceAllele": "C", "start": 3324 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_001166136.2:c.2593C>T" ], "proteinEffect": { "hgvs": "NP_001159608.1:p.Arg865Ter", "hgvsWellDefined": "NP_001159608.1:p.Arg865_Asp1228delinsGlyGluLeuLeuArgGluArgValGlnArgMetGluAlaGlnGluGlyGlyPheAlaGlnSerLeuValAlaLeuGlnPheGlnLysAlaSerArgValThrGluThrLeuSerAlaTyrThrAlaLeuLeuSerIleGlnAspLeuLeuLeuGluGluLeuSerAlaSerGluMetLeuThrLysSerAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713172" } ], "type": "nucleotide" }