{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA501229", "communityStandardTitle": [ "NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=230781[alleleid]", "alleleId": 230781, "preferredName": "NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228335", "RCV": [ "RCV000220262", "RCV000410372" ], "variationId": 228335 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/17-72305484-G-A", "id": "17-72305484-G-A", "variant": "17:72305484 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.72305484G>A?assembly=hg19", "id": "chr17:g.72305484G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.74309345G>A?assembly=hg38", "id": "chr17:g.74309345G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/752924362", "rs": 752924362 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-72305484-G-A?dataset=gnomad_r2_1", "id": "17-72305484-G-A", "variant": "17:72305484 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-74309345-G-A?dataset=gnomad_r3", "id": "17-74309345-G-A", "variant": "17:74309345 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-74309345-G-A?dataset=gnomad_r4", "id": "17-74309345-G-A", "variant": "17:74309345 G / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 74309345, "referenceAllele": "G", "start": 74309344 } ], "hgvs": [ "NC_000017.11:g.74309345G>A", "CM000679.2:g.74309345G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 72305484, "referenceAllele": "G", "start": 72305483 } ], "hgvs": [ "NC_000017.10:g.72305484G>A", "CM000679.1:g.72305484G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 69817079, "referenceAllele": "G", "start": 69817078 } ], "hgvs": [ "NC_000017.9:g.69817079G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 40099, "referenceAllele": "G", "start": 40098 } ], "hgvs": [ "NG_016865.1:g.40099G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003325" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "ENST00000311014.11:c.1304G>A" ], "proteinEffect": { "hgvs": "ENSP00000308312.6:p.Trp435Ter", "hgvsWellDefined": "ENSP00000308312.6:p.Trp435_Ala605delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS745679", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311014.11:c.1304G>A" }, "RefSeq": { "hgvs": "NM_023036.6:c.1304G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308312.6:p.Trp435Ter" }, "RefSeq": { "hgvs": "NP_075462.3:p.Trp435Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 1371, "referenceAllele": "G", "start": 1370 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "ENST00000311014.10:c.1304G>A" ], "proteinEffect": { "hgvs": "ENSP00000308312.6:p.Trp435Ter", "hgvsWellDefined": "ENSP00000308312.6:p.Trp435_Ala605delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256452" }, { "coordinates": [ { "allele": "A", "end": 1610, "referenceAllele": "G", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "ENST00000446837.2:c.1304G>A" ], "proteinEffect": { "hgvs": "ENSP00000400252.2:p.Trp435Ter", "hgvsWellDefined": "ENSP00000400252.2:p.Trp435_Ala605delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS298928" }, { "coordinates": [ { "allele": "A", "end": 1283, "referenceAllele": "G", "start": 1282 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "ENST00000579055.5:c.*675G>A" ], "proteinEffect": { "hgvs": "ENSP00000462767.1:n.*675G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS385662" }, { "coordinates": [ { "allele": "A", "end": 1610, "referenceAllele": "G", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "ENST00000579490.5:c.1475G>A" ], "proteinEffect": { "hgvs": "ENSP00000464197.1:p.Trp492Ter", "hgvsWellDefined": "ENSP00000464197.1:p.Trp492_Ala662delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS385874" }, { "coordinates": [ { "allele": "A", "end": 1411, "referenceAllele": "G", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "ENST00000582036.5:c.1304G>A" ], "proteinEffect": { "hgvs": "ENSP00000461950.1:p.Trp435Ter", "hgvsWellDefined": "ENSP00000461950.1:p.Trp435_Ala593delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS387075" }, { "@id": "http://reg.genome.network/allele/PA2826082253", "coordinates": [ { "allele": "A", "end": 1411, "referenceAllele": "G", "start": 1410 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001172810.1:c.1304G>A" ], "proteinEffect": { "hgvs": "NP_001166281.1:p.Trp435Ter", "hgvsWellDefined": "NP_001166281.1:p.Trp435_Ala593delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS015562" }, { "@id": "http://reg.genome.network/allele/PA645470000", "coordinates": [ { "allele": "A", "end": 1414, "referenceAllele": "G", "start": 1413 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_023036.4:c.1304G>A" ], "proteinEffect": { "hgvs": "NP_075462.3:p.Trp435Ter", "hgvsWellDefined": "NP_075462.3:p.Trp435_Ala605delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS037548" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_011525125.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_011523427.1:p.Trp435Ter", "hgvsWellDefined": "XP_011523427.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS092244" }, { "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_429915.2:n.1426G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118524" }, { "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_429916.2:n.1426G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS118525" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934518.1:n.1428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129827" }, { "coordinates": [ { "allele": "A", "end": 1425, "referenceAllele": "G", "start": 1424 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934519.1:n.1425G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129828" }, { "coordinates": [ { "allele": "A", "end": 1501, "referenceAllele": "G", "start": 1500 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934520.1:n.1501G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129829" }, { "coordinates": [ { "allele": "A", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934521.1:n.1413G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129830" }, { "coordinates": [ { "allele": "A", "end": 1401, "referenceAllele": "G", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934522.1:n.1401G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129831" }, { "coordinates": [ { "allele": "A", "end": 1410, "referenceAllele": "G", "start": 1409 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934523.1:n.1410G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129832" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934524.1:n.1428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129833" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934525.1:n.1428G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129834" }, { "coordinates": [ { "allele": "A", "end": 1314, "referenceAllele": "G", "start": 1313 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934526.1:n.1314G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129835" }, { "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934527.1:n.1426G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129836" }, { "coordinates": [ { "allele": "A", "end": 1426, "referenceAllele": "G", "start": 1425 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934528.1:n.1426G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129837" }, { "coordinates": [ { "allele": "A", "end": 1307, "referenceAllele": "G", "start": 1306 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934529.1:n.1307G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129838" }, { "coordinates": [ { "allele": "A", "end": 1380, "referenceAllele": "G", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934530.1:n.1380G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129839" }, { "coordinates": [ { "allele": "A", "end": 1306, "referenceAllele": "G", "start": 1305 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XR_934531.1:n.1306G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS129840" }, { "@id": "http://reg.genome.network/allele/PA2826082253", "coordinates": [ { "allele": "A", "end": 1448, "referenceAllele": "G", "start": 1447 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001172810.2:c.1304G>A" ], "proteinEffect": { "hgvs": "NP_001166281.1:p.Trp435Ter", "hgvsWellDefined": "NP_001166281.1:p.Trp435_Ala593delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511728" }, { "@id": "http://reg.genome.network/allele/PA2827712264", "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "G", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001353167.1:c.1304G>A" ], "proteinEffect": { "hgvs": "NP_001340096.1:p.Trp435Ter", "hgvsWellDefined": "NP_001340096.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS521519" }, { "@id": "http://reg.genome.network/allele/PA645470000", "coordinates": [ { "allele": "A", "end": 1451, "referenceAllele": "G", "start": 1450 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_023036.5:c.1304G>A" ], "proteinEffect": { "hgvs": "NP_075462.3:p.Trp435Ter", "hgvsWellDefined": "NP_075462.3:p.Trp435_Ala605delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS526119" }, { "coordinates": [ { "allele": "A", "end": 1329, "referenceAllele": "G", "start": 1328 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NR_148379.1:n.1329G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531117" }, { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_011525125.2:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_011523427.1:p.Trp435Ter", "hgvsWellDefined": "XP_011523427.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS547748" }, { "coordinates": [ { "allele": "A", "end": 1428, "referenceAllele": "G", "start": 1427 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450874.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306642.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306642.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584403" }, { "coordinates": [ { "allele": "A", "end": 1504, "referenceAllele": "G", "start": 1503 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450875.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306643.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306643.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584404" }, { "coordinates": [ { "allele": "A", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450876.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306644.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306644.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584405" }, { "coordinates": [ { "allele": "A", "end": 1401, "referenceAllele": "G", "start": 1400 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450877.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306645.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306645.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584406" }, { "coordinates": [ { "allele": "A", "end": 1381, "referenceAllele": "G", "start": 1380 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450878.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306646.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306646.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584407" }, { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450879.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306647.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306647.1:p.Trp435_Val648delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgValTyrAlaArgIleTyrProCysArgGlnAspTrpLeuGlnThrTrpGlyLeuGlnAlaLeuGlnAsnGluAsnValArgAlaLeuValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584408" }, { "coordinates": [ { "allele": "A", "end": 1431, "referenceAllele": "G", "start": 1430 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450880.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306648.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306648.1:p.Trp435_Ala637delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584409" }, { "coordinates": [ { "allele": "A", "end": 1317, "referenceAllele": "G", "start": 1316 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450881.1:c.1190G>A" ], "proteinEffect": { "hgvs": "XP_024306649.1:p.Trp397Ter", "hgvsWellDefined": "XP_024306649.1:p.Trp397_Ala611delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584410" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450882.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306650.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306650.1:p.Trp435_Ala593delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584411" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450883.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306651.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306651.1:p.Trp435_Gly545delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysAlaAlaThrLysSerArgArgArgProGlyGlyGlyGlyGlyArgGlySerSerGlyGlyArgArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584412" }, { "coordinates": [ { "allele": "A", "end": 1429, "referenceAllele": "G", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450884.1:c.1304G>A" ], "proteinEffect": { "hgvs": "XP_024306652.1:p.Trp435Ter", "hgvsWellDefined": "XP_024306652.1:p.Trp435_Gly545delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysAlaAlaThrLysSerArgArgArgProGlyGlyGlyGlyGlyArgGlySerSerGlyGlyArgArgGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584413" }, { "coordinates": [ { "allele": "A", "end": 1310, "referenceAllele": "G", "start": 1309 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450885.1:c.875G>A" ], "proteinEffect": { "hgvs": "XP_024306653.1:p.Trp292Ter", "hgvsWellDefined": "XP_024306653.1:p.Trp292_Ala506delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584414" }, { "coordinates": [ { "allele": "A", "end": 1383, "referenceAllele": "G", "start": 1382 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "XM_024450886.1:c.875G>A" ], "proteinEffect": { "hgvs": "XP_024306654.1:p.Trp292Ter", "hgvsWellDefined": "XP_024306654.1:p.Trp292_Ala506delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS584415" }, { "@id": "http://reg.genome.network/allele/PA645470000", "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_023036.6:c.1304G>A" ], "proteinEffect": { "hgvs": "NP_075462.3:p.Trp435Ter", "hgvsWellDefined": "NP_075462.3:p.Trp435_Ala605delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS670544", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000311014.11:c.1304G>A" }, "RefSeq": { "hgvs": "NM_023036.6:c.1304G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000308312.6:p.Trp435Ter" }, "RefSeq": { "hgvs": "NP_075462.3:p.Trp435Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826082253", "coordinates": [ { "allele": "A", "end": 1424, "referenceAllele": "G", "start": 1423 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001172810.3:c.1304G>A" ], "proteinEffect": { "hgvs": "NP_001166281.1:p.Trp435Ter", "hgvsWellDefined": "NP_001166281.1:p.Trp435_Ala593delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678795" }, { "@id": "http://reg.genome.network/allele/PA2827712264", "coordinates": [ { "allele": "A", "end": 1427, "referenceAllele": "G", "start": 1426 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NM_001353167.2:c.1304G>A" ], "proteinEffect": { "hgvs": "NP_001340096.1:p.Trp435Ter", "hgvsWellDefined": "NP_001340096.1:p.Trp435_Ala649delinsAspPheMetPheGluGlnCysAspProThrLeuSerLeuLysValCysAspGluAlaLeuPheCysLeuArgValGlnAspAsnGlyCysLeuIleAlaCysGlySerGlnLeuGlyThrThrThrLeuLeuGluValSerProGlyLeuSerThrLeuGlnArgAsnGluLysAsnValAlaSerSerMetPheGluArgGluThrArgArgGluLysIleLeuGluAlaArgHisArgGluMetArgLeuLysGluLysGlyLysAlaGluGlyArgAspGluGluGlnThrAspGluGluLeuAlaValAspLeuGluAlaLeuValSerLysAlaGluGluGluPhePheAspIleIlePheAlaGluLeuLysLysLysGluAlaAspAlaIleLysLeuThrProValProAlaLeuPheCysThrSerGlyGluArgLysLysArgHisCysLeuSerGlySerProProSerGlyProThrAspLysMetProArgTyrGluArgAlaLysGluGlnArgGlyArgGluLysLysGlnArgGlnGlnProSerProGluGluAspGlnValValGluGluGlyGluGluAlaAlaGlyGluGluGlyAspGluGluValGluGluAspLeuAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS689609" }, { "coordinates": [ { "allele": "A", "end": 1305, "referenceAllele": "G", "start": 1304 } ], "gene": "http://reg.genome.network/gene/GN018744", "geneNCBI_id": 64446, "geneSymbol": "DNAI2", "hgvs": [ "NR_148379.2:n.1305G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704721" } ], "type": "nucleotide" }