{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA356153760", "communityStandardTitle": [ "NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1491018[alleleid]", "alleleId": 1491018, "preferredName": "NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1458669", "RCV": [ "RCV001949568" ], "variationId": 1458669 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5586384G>T?assembly=hg19", "id": "chr4:g.5586384G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.5584657G>T?assembly=hg38", "id": "chr4:g.5584657G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/60809236", "rs": 60809236 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5584657-G-T?dataset=gnomad_r3", "id": "4-5584657-G-T", "variant": "4:5584657 G / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-5584657-G-T?dataset=gnomad_r4", "id": "4-5584657-G-T", "variant": "4:5584657 G / T" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5584657, "referenceAllele": "G", "start": 5584656 } ], "hgvs": [ "NC_000004.12:g.5584657G>T", "CM000666.2:g.5584657G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5586384, "referenceAllele": "G", "start": 5586383 } ], "hgvs": [ "NC_000004.11:g.5586384G>T", "CM000666.1:g.5586384G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "T", "end": 5637285, "referenceAllele": "G", "start": 5637284 } ], "hgvs": [ "NC_000004.10:g.5637285G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 129892, "referenceAllele": "C", "start": 129891 } ], "hgvs": [ "NG_015821.1:g.129892C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS002853" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3069, "referenceAllele": "C", "start": 3068 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "ENST00000344408.10:c.3023C>A" ], "proteinEffect": { "hgvs": "ENSP00000342144.5:p.Ser1008Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS562408" }, { "coordinates": [ { "allele": "A", "end": 2953, "referenceAllele": "C", "start": 2952 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007737.1:c.2783C>A" ], "proteinEffect": { "hgvs": "XP_016863226.1:p.Ser928Ter", "hgvsWellDefined": "XP_016863226.1:p.Ser928_Asp1228delinsAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562409" }, { "coordinates": [ { "allele": "A", "end": 3088, "referenceAllele": "C", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007738.1:c.3023C>A" ], "proteinEffect": { "hgvs": "XP_016863227.1:p.Ser1008Ter", "hgvsWellDefined": "XP_016863227.1:p.Ser1008_Gln1090delinsAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562410" }, { "coordinates": [ { "allele": "A", "end": 3111, "referenceAllele": "C", "start": 3110 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_017007739.1:c.1343C>A" ], "proteinEffect": { "hgvs": "XP_016863228.1:p.Ser448Ter", "hgvsWellDefined": "XP_016863228.1:p.Ser448_Asp748delinsAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562411" }, { "coordinates": [ { "allele": "A", "end": 2863, "referenceAllele": "C", "start": 2862 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XM_024453893.1:c.1343C>A" ], "proteinEffect": { "hgvs": "XP_024309661.1:p.Ser448Ter", "hgvsWellDefined": "XP_024309661.1:p.Ser448_Asp748delinsAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS587265" }, { "coordinates": [ { "allele": "A", "end": 3088, "referenceAllele": "C", "start": 3087 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "XR_001741141.1:n.3088C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS591184" }, { "@id": "http://reg.genome.network/allele/PA2830309608", "coordinates": [ { "allele": "A", "end": 3069, "referenceAllele": "C", "start": 3068 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_147127.5:c.3023C>A" ], "proteinEffect": { "hgvs": "NP_667338.3:p.Ser1008Ter", "hgvsWellDefined": "NP_667338.3:p.Ser1008_Asp1308delinsAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS672229", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000344408.10:c.3023C>A" }, "RefSeq": { "hgvs": "NM_147127.5:c.3023C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000342144.5:p.Ser1008Ter" }, "RefSeq": { "hgvs": "NP_667338.3:p.Ser1008Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573183997", "coordinates": [ { "allele": "A", "end": 3515, "referenceAllele": "C", "start": 3514 } ], "gene": "http://reg.genome.network/gene/GN019747", "geneNCBI_id": 132884, "geneSymbol": "EVC2", "hgvs": [ "NM_001166136.2:c.2783C>A" ], "proteinEffect": { "hgvs": "NP_001159608.1:p.Ser928Ter", "hgvsWellDefined": "NP_001159608.1:p.Ser928_Asp1228delinsAlaCysThrGlnIleLeuGluSerHisSerArgGluLeuGlnGluLeuGluArgLysLeuGluAspGlnLeuValGlnGlnGluAlaAlaGlnGlnGlnGlnAlaLeuAlaSerTrpGlnGlnTrpValAlaAspGlyProGlyIleLeuAsnGluProGlyGluValAspSerGluArgGlnValSerThrValLeuHisGlnAlaLeuSerLysSerGlnThrLeuLeuGluGlnHisGlnGlnCysLeuArgGluGluGlnGlnAsnSerValValLeuGluAspLeuLeuGluAsnMetGluAlaAspThrPheAlaThrLeuCysSerGlnGluLeuArgLeuAlaSerTyrLeuAlaArgMetAlaMetValProGlyAlaThrLeuArgArgLeuLeuSerValValLeuProThrAlaSerGlnProGlnLeuLeuAlaLeuLeuAspSerAlaThrGluArgHisValAspHisAlaAlaGluSerAspGlyGlyAlaGluGlnAlaAspValGlyArgArgArgLysHisGlnSerTrpTrpGlnAlaLeuAspGlyLysLeuArgGlyAspLeuIleSerArgGlyLeuGluLysMetLeuTrpAlaArgLysArgLysGlnSerIleLeuLysLysThrCysLeuProLeuArgGluArgMetIlePheSerGlyLysGlySerTrpProHisLeuSerLeuGluProIleGlyGluLeuAlaProValProIleValGlyAlaGluThrIleAspLeuLeuAsnThrGlyGluLysLeuPheIlePheArgAsnProLysGluProGluIleSerLeuHisValProProArgLysLysLysAsnPheLeuAsnAlaLysLysAlaMetArgAlaLeuGlyMetAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713172" } ], "type": "nucleotide" }