{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA1285026", "communityStandardTitle": [ "NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=208847", "active": true, "id": "COSM208847" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2898389[alleleid]", "alleleId": 2898389, "preferredName": "NM_000433.4(NCF2):c.229C>T (p.Arg77Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2734056", "RCV": [ "RCV003499912" ], "variationId": 2734056 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/1-183556058-G-A", "id": "1-183556058-G-A", "variant": "1:183556058 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.183556058G>A?assembly=hg19", "id": "chr1:g.183556058G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr1:g.183586923G>A?assembly=hg38", "id": "chr1:g.183586923G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/752901695", "rs": 752901695 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-183556058-G-A?dataset=gnomad_r2_1", "id": "1-183556058-G-A", "variant": "1:183556058 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-183586923-G-A?dataset=gnomad_r3", "id": "1-183586923-G-A", "variant": "1:183586923 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/1-183586923-G-A?dataset=gnomad_r4", "id": "1-183586923-G-A", "variant": "1:183586923 G / A" } ] }, "genomicAlleles": [ { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 183586923, "referenceAllele": "G", "start": 183586922 } ], "hgvs": [ "NC_000001.11:g.183586923G>A", "CM000663.2:g.183586923G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000049" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 183556058, "referenceAllele": "G", "start": 183556057 } ], "hgvs": [ "NC_000001.10:g.183556058G>A", "CM000663.1:g.183556058G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000025" }, { "chromosome": "1", "coordinates": [ { "allele": "A", "end": 181822681, "referenceAllele": "G", "start": 181822680 } ], "hgvs": [ "NC_000001.9:g.181822681G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000001" }, { "coordinates": [ { "allele": "T", "end": 8659, "referenceAllele": "C", "start": 8658 } ], "hgvs": [ "NG_007267.1:g.8659C>T", "LRG_88:g.8659C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS000515" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 325, "referenceAllele": "C", "start": 324 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000697330.1:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000513258.1:p.Arg77Ter", "hgvsWellDefined": "ENSP00000513258.1:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908706" }, { "coordinates": [ { "allele": "T", "end": 464, "referenceAllele": "C", "start": 463 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000697351.1:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000513276.1:p.Arg77Ter", "hgvsWellDefined": "ENSP00000513276.1:p.Arg77_Val490delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS908722" }, { "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000697352.1:n.329C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908723" }, { "coordinates": [ { "allele": "T", "end": 342, "referenceAllele": "C", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000697353.1:n.342C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS908724" }, { "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000367535.8:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000356505.4:p.Arg77Ter", "hgvsWellDefined": "ENSP00000356505.4:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS750032", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367535.8:c.229C>T" }, "RefSeq": { "hgvs": "NM_000433.4:c.229C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356505.4:p.Arg77Ter" }, "RefSeq": { "hgvs": "NP_000424.2:p.Arg77Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 481, "referenceAllele": "C", "start": 480 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000367535.7:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000356505.3:p.Arg77Ter", "hgvsWellDefined": "ENSP00000356505.3:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266440" }, { "coordinates": [ { "allele": "T", "end": 296, "referenceAllele": "C", "start": 295 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000367536.5:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000356506.1:p.Arg77Ter", "hgvsWellDefined": "ENSP00000356506.1:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS266441" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000413720.5:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000399294.1:p.Arg77Ter", "hgvsWellDefined": "ENSP00000399294.1:p.Arg77_Val481delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS283202" }, { "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "ENST00000418089.5:c.229C>T" ], "proteinEffect": { "hgvs": "ENSP00000407217.1:p.Arg77Ter", "hgvsWellDefined": "ENSP00000407217.1:p.Arg77_Val445delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS285227" }, { "coordinates": [ { "allele": "A", "end": 233, "endIntronDirection": "-", "endIntronOffset": 10845, "referenceAllele": "G", "start": 233, "startIntronDirection": "-", "startIntronOffset": 10846 } ], "gene": "http://reg.genome.network/gene/GN016792", "geneNCBI_id": 9887, "geneSymbol": "SMG7", "hgvs": [ "ENST00000495321.1:n.234-10846G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS332047" }, { "@id": "http://reg.genome.network/allele/PA2825170019", "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_000433.3:c.229C>T", "LRG_88t1:c.229C>T" ], "proteinEffect": { "hgvs": "NP_000424.2:p.Arg77Ter", "hgvsWellDefined": "NP_000424.2:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006495" }, { "@id": "http://reg.genome.network/allele/PA2825648802", "coordinates": [ { "allele": "T", "end": 341, "referenceAllele": "C", "start": 340 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001127651.2:c.229C>T" ], "proteinEffect": { "hgvs": "NP_001121123.1:p.Arg77Ter", "hgvsWellDefined": "NP_001121123.1:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011661" }, { "@id": "http://reg.genome.network/allele/PA2826164249", "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001190789.1:c.229C>T" ], "proteinEffect": { "hgvs": "NP_001177718.1:p.Arg77Ter", "hgvsWellDefined": "NP_001177718.1:p.Arg77_Val445delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016220" }, { "@id": "http://reg.genome.network/allele/PA2826164537", "coordinates": [ { "allele": "T", "end": 504, "referenceAllele": "C", "start": 503 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001190794.1:c.229C>T" ], "proteinEffect": { "hgvs": "NP_001177723.1:p.Arg77Ter", "hgvsWellDefined": "NP_001177723.1:p.Arg77_Val481delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS016223" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "XM_005245207.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_005245264.1:p.Arg77Ter", "hgvsWellDefined": "XP_005245264.1:p.Arg77_Val490delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS057130" }, { "coordinates": [ { "allele": "T", "end": 342, "referenceAllele": "C", "start": 341 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "XM_011509580.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011507882.1:p.Arg77Ter", "hgvsWellDefined": "XP_011507882.1:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076847" }, { "coordinates": [ { "allele": "T", "end": 329, "referenceAllele": "C", "start": 328 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "XM_011509581.1:c.229C>T" ], "proteinEffect": { "hgvs": "XP_011507883.1:p.Arg77Ter", "hgvsWellDefined": "XP_011507883.1:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS076848" }, { "coordinates": [ { "allele": "T", "end": 433, "referenceAllele": "C", "start": 432 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "XR_921801.1:n.433C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS118970" }, { "@id": "http://reg.genome.network/allele/PA2825170019", "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_000433.4:c.229C>T" ], "proteinEffect": { "hgvs": "NP_000424.2:p.Arg77Ter", "hgvsWellDefined": "NP_000424.2:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674844", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000367535.8:c.229C>T" }, "RefSeq": { "hgvs": "NM_000433.4:c.229C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000356505.4:p.Arg77Ter" }, "RefSeq": { "hgvs": "NP_000424.2:p.Arg77Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825648802", "coordinates": [ { "allele": "T", "end": 334, "referenceAllele": "C", "start": 333 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001127651.3:c.229C>T" ], "proteinEffect": { "hgvs": "NP_001121123.1:p.Arg77Ter", "hgvsWellDefined": "NP_001121123.1:p.Arg77_Val526delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValLeuTyrAsnIleAlaPheMetTyrAlaLysLysGluGluTrpLysLysAlaGluGluGlnLeuAlaLeuAlaThrSerMetLysSerGluProArgHisSerLysIleAspLysAlaMetGluCysValTrpLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676922" }, { "@id": "http://reg.genome.network/allele/PA2826164249", "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001190789.2:c.229C>T" ], "proteinEffect": { "hgvs": "NP_001177718.1:p.Arg77Ter", "hgvsWellDefined": "NP_001177718.1:p.Arg77_Val445delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713677" }, { "@id": "http://reg.genome.network/allele/PA2826164537", "coordinates": [ { "allele": "T", "end": 359, "referenceAllele": "C", "start": 358 } ], "gene": "http://reg.genome.network/gene/GN007661", "geneNCBI_id": 4688, "geneSymbol": "NCF2", "hgvs": [ "NM_001190794.2:c.229C>T" ], "proteinEffect": { "hgvs": "NP_001177723.1:p.Arg77Ter", "hgvsWellDefined": "NP_001177723.1:p.Arg77_Val481delinsGlyMetLeuTyrTyrGlnThrGluLysTyrAspLeuAlaIleLysAspLeuLysGluAlaLeuIleGlnLeuArgGlyAsnGlnLeuIleAspTyrLysIleLeuGlyLeuGlnPheLysLeuPheAlaCysGluLysGlnLysLeuTyrGluProValValIleProValGlyLysLeuPheArgProAsnGluArgGlnValAlaGlnLeuAlaLysLysAspTyrLeuGlyLysAlaThrValValAlaSerValValAspGlnAspSerPheSerGlyPheAlaProLeuGlnProGlnAlaAlaGluProProProArgProLysThrProGluIlePheArgAlaLeuGluGlyGluAlaHisArgValLeuPheGlyPheValProGluThrLysGluGluLeuGlnValMetProGlyAsnIleValPheValLeuLysLysGlyAsnAspAsnTrpAlaThrValMetPheAsnGlyGlnLysGlyLeuValProCysAsnTyrLeuGluProValGluLeuArgIleHisProGlnGlnGlnProGlnGluGluSerSerProGlnSerAspIleProAlaProProSerSerLysAlaProGlyArgProGlnLeuSerProGlyGlnLysGlnLysGluGluProLysGluValLysLeuSerValProMetProTyrThrLeuLysValHisTyrLysTyrThrValValMetLysThrGlnProGlyLeuProTyrSerGlnValArgAspMetValSerLysLysLeuGluLeuArgLeuGluHisThrLysLeuSerTyrArgProArgAspSerAsnGluLeuValProLeuSerGluAspSerMetLysAspAlaTrpGlyGlnValLysAsnTyrCysLeuThrLeuTrpCysGluAsnThrValGlyAspGlnGlyPheProAspGluProLysGluSerGluLysAlaAspAlaAsnAsnGlnThrThrGluProGlnLeuLysLysGlySerGlnValGluAlaLeuPheSerTyrGluAlaThrGlnProGluAspLeuGluPheGlnGluGlyAspIleIleLeuValLeuSerLysValAsnGluGluTrpLeuGluGlyGluCysLysGlyLysValGlyIlePheProLysValPheValGluAspCysAlaThrThrAspLeuGluSerThrArgArgGluValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713678" } ], "type": "nucleotide" }