{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA3750328", "communityStandardTitle": [ "NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=492539[alleleid]", "alleleId": 492539, "preferredName": "NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/501115", "RCV": [ "RCV000591888" ], "variationId": 501115 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/6-33136512-G-A", "id": "6-33136512-G-A", "variant": "6:33136512 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.33136512G>A?assembly=hg19", "id": "chr6:g.33136512G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.33168735G>A?assembly=hg38", "id": "chr6:g.33168735G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/746754428", "rs": 746754428 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-33136512-G-A?dataset=gnomad_r2_1", "id": "6-33136512-G-A", "variant": "6:33136512 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/6-33168735-G-A?dataset=gnomad_r4", "id": "6-33168735-G-A", "variant": "6:33168735 G / A" } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 33168735, "referenceAllele": "G", "start": 33168734 } ], "hgvs": [ "NC_000006.12:g.33168735G>A", "CM000668.2:g.33168735G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000054" }, { "chromosome": "6", "coordinates": [ { "allele": "A", "end": 33136512, "referenceAllele": "G", "start": 33136511 } ], "hgvs": [ "NC_000006.11:g.33136512G>A", "CM000668.1:g.33136512G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000030" }, { "chromosome": "6", 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}, "referenceSequence": "http://reg.genome.network/refseq/RS748030", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341947.7:c.3877C>T" }, "RefSeq": { "hgvs": "NM_080680.3:c.3877C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000339915.2:p.Arg1293Ter" }, "RefSeq": { "hgvs": "NP_542411.2:p.Arg1293Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 4105, "referenceAllele": "C", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000341947.6:c.3877C>T" ], "proteinEffect": { "hgvs": "ENSP00000339915.2:p.Arg1293Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS261444" }, { "coordinates": [ { "allele": "T", "end": 3784, "referenceAllele": "C", "start": 3783 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000361917.5:c.3556C>T" ], "proteinEffect": { "hgvs": "ENSP00000355123.1:p.Arg1186Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS265710" }, { "coordinates": [ { "allele": "T", "end": 3878, "referenceAllele": "C", "start": 3877 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000374708.8:c.3619C>T" ], "proteinEffect": { "hgvs": "ENSP00000363840.4:p.Arg1207Ter", "hgvsWellDefined": "ENSP00000363840.4:p.Arg1207_Gly1650delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270371" }, { "coordinates": [ { "allele": "T", "end": 272, "endIntronDirection": "-", "endIntronOffset": 2918, "referenceAllele": "C", "start": 272, "startIntronDirection": "-", "startIntronOffset": 2919 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "ENST00000477772.1:n.273-2919C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS318515" }, { "@id": "http://reg.genome.network/allele/PA2830130272", "coordinates": [ { "allele": "T", "end": 3784, "referenceAllele": "C", "start": 3783 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080679.2:c.3556C>T" ], "proteinEffect": { "hgvs": "NP_542410.2:p.Arg1186Ter", "hgvsWellDefined": "NP_542410.2:p.Arg1186_Gly1629delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040241" }, { "@id": "http://reg.genome.network/allele/PA658805297", "coordinates": [ { "allele": "T", "end": 4105, "referenceAllele": "C", "start": 4104 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080680.2:c.3877C>T" ], "proteinEffect": { "hgvs": "NP_542411.2:p.Arg1293Ter", "hgvsWellDefined": "NP_542411.2:p.Arg1293_Gly1736delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040242" }, { "@id": "http://reg.genome.network/allele/PA2830159728", "coordinates": [ { "allele": "T", "end": 3847, "referenceAllele": "C", "start": 3846 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080681.2:c.3619C>T" ], "proteinEffect": { "hgvs": "NP_542412.2:p.Arg1207Ter", "hgvsWellDefined": "NP_542412.2:p.Arg1207_Gly1650delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS040243" }, { "coordinates": [ { "allele": "T", "end": 3923, "referenceAllele": "C", "start": 3922 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514298.1:c.3031C>T" ], "proteinEffect": { "hgvs": "XP_011512600.1:p.Arg1011Ter", "hgvsWellDefined": "XP_011512600.1:p.Arg1011_Gly1454delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS081523" }, { "coordinates": [ { "allele": "T", "end": 3399, "referenceAllele": "C", "start": 3398 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "XM_011514299.1:c.3163C>T" ], "proteinEffect": { "hgvs": "XP_011512601.1:p.Arg1055Ter", "hgvsWellDefined": "XP_011512601.1:p.Arg1055_Gly1498delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS564356" }, { "@id": "http://reg.genome.network/allele/PA658805297", "coordinates": [ { "allele": "T", "end": 4104, "referenceAllele": "C", "start": 4103 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080680.3:c.3877C>T" ], "proteinEffect": { "hgvs": "NP_542411.2:p.Arg1293Ter", "hgvsWellDefined": "NP_542411.2:p.Arg1293_Gly1736delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699534", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000341947.7:c.3877C>T" }, "RefSeq": { "hgvs": "NM_080680.3:c.3877C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000339915.2:p.Arg1293Ter" }, "RefSeq": { "hgvs": "NP_542411.2:p.Arg1293Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2830159728", "coordinates": [ { "allele": "T", "end": 3846, "referenceAllele": "C", "start": 3845 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080681.3:c.3619C>T" ], "proteinEffect": { "hgvs": "NP_542412.2:p.Arg1207Ter", "hgvsWellDefined": "NP_542412.2:p.Arg1207_Gly1650delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS699535" }, { "@id": "http://reg.genome.network/allele/PA2830130272", "coordinates": [ { "allele": "T", "end": 3783, "referenceAllele": "C", "start": 3782 } ], "gene": "http://reg.genome.network/gene/GN002187", "geneNCBI_id": 1302, "geneSymbol": "COL11A2", "hgvs": [ "NM_080679.3:c.3556C>T" ], "proteinEffect": { "hgvs": "NP_542410.2:p.Arg1186Ter", "hgvsWellDefined": "NP_542410.2:p.Arg1186_Gly1629delinsGlyGluAspGlyGluProGlyGlnProGlySerProGlyProThrGlyGluAsnGlyProProGlyProLeuGlyLysArgGlyProAlaGlySerProGlySerGluGlyArgGlnGlyGlyLysGlyAlaLysGlyAspProGlyAlaIleGlyAlaProGlyLysThrGlyProValGlyProAlaGlyProAlaGlyLysProGlyProAspGlyLeuArgGlyLeuProGlySerValGlyGlnGlnGlyArgProGlyAlaThrGlyGlnAlaGlyProProGlyProValGlyProProGlyLeuProGlyLeuArgGlyAspAlaGlyAlaLysGlyGluLysGlyHisProGlyLeuIleGlyLeuIleGlyProProGlyGluGlnGlyGluLysGlyAspArgGlyLeuProGlyProGlnGlySerProGlyGlnLysGlyGluMetGlyIleProGlyAlaSerGlyProIleGlyProGlyGlyProProGlyLeuProGlyProAlaGlyProLysGlyAlaLysGlyAlaThrGlyProGlyGlyProLysGlyGluLysGlyValGlnGlyProProGlyHisProGlyProProGlyGluValIleGlnProLeuProIleGlnMetProLysLysThrArgArgSerValAspGlySerArgLeuMetGlnGluAspGluAlaIleProThrGlyGlyAlaProGlySerProGlyGlyLeuGluGluIlePheGlySerLeuAspSerLeuArgGluGluIleGluGlnMetArgArgProThrGlyThrGlnAspSerProAlaArgThrCysGlnAspLeuLysLeuCysHisProGluLeuProAspGlyGluTyrTrpValAspProAsnGlnGlyCysAlaArgAspAlaPheArgValPheCysAsnPheThrAlaGlyGlyGluThrCysValThrProArgAspAspValThrGlnPheSerTyrValAspSerGluGlySerProValGlyValValGlnLeuThrPheLeuArgLeuLeuSerValSerAlaHisGlnAspValSerTyrProCysSerGlyAlaAlaArgAspGlyProLeuArgLeuArgGlyAlaAsnGluAspGluLeuSerProGluThrSerProTyrValLysGluPheArgAspGlyCysGlnThrGlnGlnGlyArgThrValLeuGluValArgThrProValLeuGluGlnLeuProValLeuAspAlaSerPheSerAspLeuGlyAlaProProArgArgGlyGlyValLeuLeuGlyProValCysPheMetGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS729056" } ], "type": "nucleotide" }