{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA378258000", "communityStandardTitle": [ "NM_000278.5(PAX2):c.310C>T (p.Arg104Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3396870", "active": true, "id": "COSM3396870" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=3396871", "active": true, "id": "COSM3396871" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1292184[alleleid]", "alleleId": 1292184, "preferredName": "NM_000278.5(PAX2):c.310C>T (p.Arg104Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1301902", "RCV": [ "RCV001733843", "RCV002243456" ], "variationId": 1301902 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.102510548C>T?assembly=hg19", "id": "chr10:g.102510548C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr10:g.100750791C>T?assembly=hg38", "id": "chr10:g.100750791C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/922533851", "rs": 922533851 } ] }, "genomicAlleles": [ { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 100750791, "referenceAllele": "C", "start": 100750790 } ], "hgvs": [ "NC_000010.11:g.100750791C>T", "CM000672.2:g.100750791C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000058" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 102510548, "referenceAllele": "C", "start": 102510547 } ], "hgvs": [ "NC_000010.10:g.102510548C>T", "CM000672.1:g.102510548C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000034" }, { "chromosome": "10", "coordinates": [ { "allele": "T", "end": 102500538, "referenceAllele": "C", "start": 102500537 } ], "hgvs": [ "NC_000010.9:g.102500538C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000010" }, { "coordinates": [ { "allele": "T", "end": 10081, "referenceAllele": "C", "start": 10080 } ], "hgvs": [ "NG_008680.1:g.10081C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001165" }, { "coordinates": [ { "allele": "T", "end": 20083, "referenceAllele": "C", "start": 20082 } ], "hgvs": [ "NG_008680.2:g.20083C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616108" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000707078.1:c.403C>T" ], "proteinEffect": { "hgvs": "ENSP00000516729.1:p.Arg135Ter", "hgvsWellDefined": "ENSP00000516729.1:p.Arg135_His425delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913309" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000707079.1:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000516730.1:p.Arg104Ter", "hgvsWellDefined": "ENSP00000516730.1:p.Arg104_Val432delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS913310" }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000355243.8:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000347385.3:p.Arg104Ter", "hgvsWellDefined": "ENSP00000347385.3:p.Arg104_His394delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS748645", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355243.8:c.310C>T" }, "RefSeq": { "hgvs": "NM_000278.5:c.310C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347385.3:p.Arg104Ter" }, "RefSeq": { "hgvs": "NP_000269.3:p.Arg104Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000427256.6:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000398652.2:p.Arg104Ter", "hgvsWellDefined": "ENSP00000398652.2:p.Arg104_Val409delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS755171" }, { "coordinates": [ { "allele": "T", "end": 605, "referenceAllele": "C", "start": 604 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000679374.1:c.292C>T" ], "proteinEffect": { "hgvs": "ENSP00000506041.1:p.Arg98Ter", "hgvsWellDefined": "ENSP00000506041.1:p.Arg98_His388delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS779007" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000355243.7:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000347385.2:p.Arg104Ter", "hgvsWellDefined": "ENSP00000347385.2:p.Arg104_His394delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS263376" }, { "coordinates": [ { "allele": "T", "end": 348, "referenceAllele": "C", "start": 347 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000361791.7:c.307C>T" ], "proteinEffect": { "hgvs": "ENSP00000355069.4:p.Arg103Ter", "hgvsWellDefined": "ENSP00000355069.4:p.Arg103_His393delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265657" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000370296.6:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000359319.3:p.Arg104Ter", "hgvsWellDefined": "ENSP00000359319.3:p.Arg104_Tyr396delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS267981" }, { "coordinates": [ { "allele": "T", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000427256.5:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000398652.1:p.Arg104Ter", "hgvsWellDefined": "ENSP00000398652.1:p.Arg104Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS289612" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000428433.5:c.310C>T" ], "proteinEffect": { "hgvs": "ENSP00000396259.1:p.Arg104Ter", "hgvsWellDefined": "ENSP00000396259.1:p.Arg104_His417delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS290196" }, { "coordinates": [ { "allele": "T", "end": 131, "endIntronDirection": "+", "endIntronOffset": 15058, "referenceAllele": "C", "start": 131, "startIntronDirection": "+", "startIntronOffset": 15057 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000553492.5:n.131+15058C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS369896" }, { "coordinates": [ { "allele": "T", "end": 1163, "referenceAllele": "C", "start": 1162 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000554172.2:c.322C>T" ], "proteinEffect": { "hgvs": "ENSP00000452489.2:p.Arg108Ter", "hgvsWellDefined": "ENSP00000452489.2:p.Arg108Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS370429" }, { "coordinates": [ { "allele": "T", "end": 125, "endIntronDirection": "+", "endIntronOffset": 4488, "referenceAllele": "C", "start": 125, "startIntronDirection": "+", "startIntronOffset": 4487 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "ENST00000554363.2:n.125+4488C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS370582" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_000278.3:c.310C>T" ], "proteinEffect": { "hgvs": "NP_000269.2:p.Arg104Ter", "hgvsWellDefined": "NP_000269.2:p.Arg104_His393delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgSerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006340" }, { "@id": "http://reg.genome.network/allele/PA2573069845", "coordinates": [ { "allele": "T", "end": 403, "referenceAllele": "C", "start": 402 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_001304569.1:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001291498.1:p.Arg135Ter", "hgvsWellDefined": "NP_001291498.1:p.Arg135_His425delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS025773" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003987.3:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003978.2:p.Arg104Ter", "hgvsWellDefined": "NP_003978.2:p.Arg104_His416delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgSerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029188" }, { "@id": "http://reg.genome.network/allele/PA2829479767", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003988.3:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003979.2:p.Arg104Ter", "hgvsWellDefined": "NP_003979.2:p.Arg104_Tyr396delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029189" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003989.3:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003980.2:p.Arg104Ter", "hgvsWellDefined": "NP_003980.2:p.Arg104_Val408delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029190" }, { "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.3:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003981.2:p.Arg104Ter", "hgvsWellDefined": "NP_003981.2:p.Arg104_Val431delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS029191" }, { "@id": "http://reg.genome.network/allele/PA2825138373", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_000278.4:c.310C>T" ], "proteinEffect": { "hgvs": "NP_000269.3:p.Arg104Ter", "hgvsWellDefined": "NP_000269.3:p.Arg104_His394delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510775" }, { "@id": "http://reg.genome.network/allele/PA2829479437", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003987.4:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003978.3:p.Arg104Ter", "hgvsWellDefined": "NP_003978.3:p.Arg104_His417delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525158" }, { "@id": "http://reg.genome.network/allele/PA2829479767", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003988.4:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003979.2:p.Arg104Ter", "hgvsWellDefined": "NP_003979.2:p.Arg104_Tyr396delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525159" }, { "@id": "http://reg.genome.network/allele/PA2829480176", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003989.4:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003980.3:p.Arg104Ter", "hgvsWellDefined": "NP_003980.3:p.Arg104_Val409delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525160" }, { "@id": "http://reg.genome.network/allele/PA2829480443", "coordinates": [ { "allele": "T", "end": 860, "referenceAllele": "C", "start": 859 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.4:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003981.3:p.Arg104Ter", "hgvsWellDefined": "NP_003981.3:p.Arg104_Val432delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS525161" }, { "@id": "http://reg.genome.network/allele/PA2825138373", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_000278.5:c.310C>T" ], "proteinEffect": { "hgvs": "NP_000269.3:p.Arg104Ter", "hgvsWellDefined": "NP_000269.3:p.Arg104_His394delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674773", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000355243.8:c.310C>T" }, "RefSeq": { "hgvs": "NM_000278.5:c.310C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000347385.3:p.Arg104Ter" }, "RefSeq": { "hgvs": "NP_000269.3:p.Arg104Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573069845", "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_001304569.2:c.403C>T" ], "proteinEffect": { "hgvs": "NP_001291498.1:p.Arg135Ter", "hgvsWellDefined": "NP_001291498.1:p.Arg135_His425delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS683727" }, { "@id": "http://reg.genome.network/allele/PA2829479437", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003987.5:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003978.3:p.Arg104Ter", "hgvsWellDefined": "NP_003978.3:p.Arg104_His417delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuSerSerProTyrTyrTyrSerAlaAlaProArgGlySerAlaProAlaAlaAlaAlaAlaAlaTyrAspArgHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696006" }, { "@id": "http://reg.genome.network/allele/PA2829479767", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003988.5:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003979.2:p.Arg104Ter", "hgvsWellDefined": "NP_003979.2:p.Arg104_Tyr396delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGluAlaAlaValGlyProSerSerSerLeuMetSerLysProGlyArgLysLeuAlaGluValProProCysValGlnProThrGlyAlaSerSerProAlaThrArgThrAlaThrProSerThrArgProThrThrArgLeuGlyAspSerAlaThrProProTyrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696007" }, { "@id": "http://reg.genome.network/allele/PA2829480176", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003989.5:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003980.3:p.Arg104Ter", "hgvsWellDefined": "NP_003980.3:p.Arg104_Val409delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696008" }, { "@id": "http://reg.genome.network/allele/PA2829480443", "coordinates": [ { "allele": "T", "end": 989, "referenceAllele": "C", "start": 988 } ], "gene": "http://reg.genome.network/gene/GN008616", "geneNCBI_id": 5076, "geneSymbol": "PAX2", "hgvs": [ "NM_003990.5:c.310C>T" ], "proteinEffect": { "hgvs": "NP_003981.3:p.Arg104Ter", "hgvsWellDefined": "NP_003981.3:p.Arg104_Val432delinsGlnAsnProThrMetPheAlaTrpGluIleArgAspArgLeuLeuAlaGluGlyIleCysAspAsnAspThrValProSerValSerSerIleAsnArgIleIleArgThrLysValGlnGlnProPheHisProThrProAspGlyAlaGlyThrGlyValThrAlaProGlyHisThrIleValProSerThrAlaSerProProValSerSerAlaSerAsnAspProValGlySerTyrSerIleAsnGlyIleLeuGlyIleProArgSerAsnGlyGluLysArgLysArgAspGluValGluValTyrThrAspProAlaHisIleArgGlyGlyGlyGlyLeuHisLeuValTrpThrLeuArgAspValSerGluGlySerValProAsnGlyAspSerGlnSerGlyValAspSerLeuArgLysHisLeuArgAlaAspThrPheThrGlnGlnGlnLeuGluAlaLeuAspArgValPheGluArgProSerTyrProAspValPheGlnAlaSerGluHisIleLysSerGluGlnGlyAsnGluTyrSerLeuProAlaLeuThrProGlyLeuAspGluValLysSerSerLeuSerAlaSerThrAsnProGluLeuGlySerAsnValSerGlyThrGlnThrTyrProValValThrGlyArgAspMetAlaSerThrThrLeuProGlyTyrProProHisValProProThrGlyGlnGlySerTyrProThrSerThrLeuAlaGlyMetValProGlySerGluPheSerGlyAsnProTyrSerHisProGlnTyrThrAlaTyrAsnGluAlaTrpArgPheSerAsnProAlaLeuLeuMetProProProGlyAlaProProLeuProLeuLeuProLeuProMetThrAlaThrSerTyrArgGlyAspHisIleLysLeuGlnAlaAspSerPheGlyLeuHisIleValProValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS696009" } ], "type": "nucleotide" }