{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA16620960", "communityStandardTitle": [ "NM_172107.4(KCNQ2):c.2401del (p.Ser801ProfsTer?)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=410813[alleleid]", "alleleId": 410813, "preferredName": "NM_172107.4(KCNQ2):c.2401del (p.Ser801fs)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/419407", "RCV": [ "RCV000487374" ], "variationId": 419407 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62038215del?assembly=hg19", "id": "chr20:g.62038215del" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63406862del?assembly=hg38", "id": "chr20:g.63406862del" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793852", "rs": 1064793852 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "", "end": 63406863, "referenceAllele": "A", "start": 63406862 } ], "hgvs": [ "NC_000020.11:g.63406863del", "CM000682.2:g.63406863del" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "", "end": 62038216, "referenceAllele": "A", "start": 62038215 } ], "hgvs": [ "NC_000020.10:g.62038216del", "CM000682.1:g.62038216del" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "", "end": 61508660, "referenceAllele": "A", "start": 61508659 } ], "hgvs": [ "NC_000020.9:g.61508660del" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "", "end": 70779, "referenceAllele": "T", "start": 70778 } ], "hgvs": [ "NG_009004.1:g.70779del" ], "referenceSequence": "http://reg.genome.network/refseq/RS001372" }, { "coordinates": [ { "allele": "", "end": 70779, "referenceAllele": "T", "start": 70778 } ], "hgvs": [ "NG_009004.2:g.70779del" ], "referenceSequence": "http://reg.genome.network/refseq/RS616122" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "", "end": 2647, "referenceAllele": "T", "start": 2646 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000706989.1:c.2455del" ], "proteinEffect": { "hgvs": "ENSP00000516702.1:p.Ser819ProfsTer?", "hgvsWellDefined": "ENSP00000516702.1:p.[Ser819_Phe820delinsPro;Gly822_Phe823delinsAlaAla;Ile825Ala;Gln827Pro;Lys829_Ala834delinsProArgArgThrTrpMet;Asn836del;Cys838_Tyr839delinsThr;Val842_Ala843delinsThrArg;Cys845_Lys847delinsTrpArgLeu;Val848_Arg849insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS913294" }, { "coordinates": [ { "allele": "", "end": 2593, "referenceAllele": "T", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.7:c.2401del" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Ser801ProfsTer?", "hgvsWellDefined": "ENSP00000352035.2:p.[Ser801_Phe802delinsPro;Gly804_Phe805delinsAlaAla;Ile807Ala;Gln809Pro;Lys811_Ala816delinsProArgArgThrTrpMet;Asn818del;Cys820_Tyr821delinsThr;Val824_Ala825delinsThrArg;Cys827_Lys829delinsTrpArgLeu;Val830_Arg831insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS749156", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.2401del" }, "RefSeq": { "hgvs": "NM_172107.4:c.2401del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Ser801ProfsTer?" }, "RefSeq": { "hgvs": "NP_742105.1:p.Ser801ProfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 2200, "referenceAllele": "T", "start": 2199 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000637193.1:c.1798del" ], "proteinEffect": { "hgvs": "ENSP00000490734.1:p.Ser600ProfsTer?", "hgvsWellDefined": "ENSP00000490734.1:p.[Ser600_Phe601delinsPro;Gly603_Phe604delinsAlaAla;Ile606Ala;Gln608Pro;Lys610_Ala615delinsProArgArgThrTrpMet;Asn617del;Cys619_Tyr620delinsThr;Val623_Ala624delinsThrArg;Cys626_Lys628delinsTrpArgLeu;Val629_Arg630insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS763682" }, { "coordinates": [ { "allele": "", "end": 2354, "referenceAllele": "T", "start": 2353 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344462.8:c.2308del" ], "proteinEffect": { "hgvs": "ENSP00000339611.4:p.Ser770ProfsTer?", "hgvsWellDefined": "ENSP00000339611.4:p.[Ser770_Phe771delinsPro;Gly773_Phe774delinsAlaAla;Ile776Ala;Gln778Pro;Lys780_Ala785delinsProArgArgThrTrpMet;Asn787del;Cys789_Tyr790delinsThr;Val793_Ala794delinsThrArg;Cys796_Lys798delinsTrpArgLeu;Val799_Arg800insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS261982" }, { "coordinates": [ { "allele": "", "end": 1969, "referenceAllele": "T", "start": 1968 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000357249.6:c.1969del" ], "proteinEffect": { "hgvs": "ENSP00000349789.3:p.Ser657ProfsTer?", "hgvsWellDefined": "ENSP00000349789.3:p.[Ser657_Phe658delinsPro;Gly660_Phe661delinsAlaAla;Ile663Ala;Gln665Pro;Lys667_Ala672delinsProArgArgThrTrpMet;Asn674del;Cys676_Tyr677delinsThr;Val680_Ala681delinsThrArg;Cys683_Lys685delinsTrpArgLeu;Val686_Arg687insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS264035" }, { "coordinates": [ { "allele": "", "end": 2528, "referenceAllele": "T", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.6:c.2401del" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Ser801ProfsTer?", "hgvsWellDefined": "ENSP00000352035.2:p.[Ser801_Phe802delinsPro;Gly804_Phe805delinsAlaAla;Ile807Ala;Gln809Pro;Lys811_Ala816delinsProArgArgThrTrpMet;Asn818del;Cys820_Tyr821delinsThr;Val824_Ala825delinsThrArg;Cys827_Lys829delinsTrpArgLeu;Val830_Arg831insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS264683" }, { "coordinates": [ { "allele": "", "end": 2359, "referenceAllele": "T", "start": 2358 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000360480.7:c.2317del" ], "proteinEffect": { "hgvs": "ENSP00000353668.3:p.Ser773ProfsTer?", "hgvsWellDefined": "ENSP00000353668.3:p.[Ser773_Phe774delinsPro;Gly776_Phe777delinsAlaAla;Ile779Ala;Gln781Pro;Lys783_Ala788delinsProArgArgThrTrpMet;Asn790del;Cys792_Tyr793delinsThr;Val796_Ala797delinsThrArg;Cys799_Lys801delinsTrpArgLeu;Val802_Arg803insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS265147" }, { "coordinates": [ { "allele": "", "end": 2376, "endIntronDirection": "+", "endIntronOffset": 184, "referenceAllele": "T", "start": 2376, "startIntronDirection": "+", "startIntronOffset": 183 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370224.5:c.2241+184del" ], "proteinEffect": { "hgvs": "ENSP00000359244.2:n.2241+184del" }, "referenceSequence": "http://reg.genome.network/refseq/RS267945" }, { "coordinates": [ { "allele": "", "end": 2297, "endIntronDirection": "+", "endIntronOffset": 184, "referenceAllele": "T", "start": 2297, "startIntronDirection": "+", "startIntronOffset": 183 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000625514.2:c.2205+184del" ], "proteinEffect": { "hgvs": "ENSP00000486040.1:n.2205+184del" }, "referenceSequence": "http://reg.genome.network/refseq/RS406588" }, { "coordinates": [ { "allele": "", "end": 2561, "referenceAllele": "T", "start": 2560 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000626839.2:c.2347del" ], "proteinEffect": { "hgvs": "ENSP00000486706.1:p.Ser783ProfsTer?", "hgvsWellDefined": "ENSP00000486706.1:p.[Ser783_Phe784delinsPro;Gly786_Phe787delinsAlaAla;Ile789Ala;Gln791Pro;Lys793_Ala798delinsProArgArgThrTrpMet;Asn800del;Cys802_Tyr803delinsThr;Val806_Ala807delinsThrArg;Cys809_Lys811delinsTrpArgLeu;Val812_Arg813insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS406799" }, { "coordinates": [ { "allele": "", "end": 2225, "endIntronDirection": "+", "endIntronOffset": 184, "referenceAllele": "T", "start": 2225, "startIntronDirection": "+", "startIntronOffset": 183 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629241.2:c.2133+184del" ], "proteinEffect": { "hgvs": "ENSP00000487142.1:n.2133+184del" }, "referenceSequence": "http://reg.genome.network/refseq/RS407190" }, { "coordinates": [ { "allele": "", "end": 1771, "endIntronDirection": "-", "endIntronOffset": 6018, "referenceAllele": "T", "start": 1771, "startIntronDirection": "-", "startIntronOffset": 6019 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629676.2:c.1680-6019del" ], "proteinEffect": { "hgvs": "ENSP00000486194.1:n.1680-6019del" }, "referenceSequence": "http://reg.genome.network/refseq/RS407259" }, { "coordinates": [ { "allele": "", "end": 2494, "referenceAllele": "T", "start": 2493 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.4:c.2317del" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Ser773ProfsTer?", "hgvsWellDefined": "NP_004509.2:p.[Ser773_Phe774delinsPro;Gly776_Phe777delinsAlaAla;Ile779Ala;Gln781Pro;Lys783_Ala788delinsProArgArgThrTrpMet;Asn790del;Cys792_Tyr793delinsThr;Val796_Ala797delinsThrArg;Cys799_Lys801delinsTrpArgLeu;Val802_Arg803insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS029676" }, { "coordinates": [ { "allele": "", "end": 2524, "referenceAllele": "T", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.1:c.2347del" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Ser783ProfsTer?", "hgvsWellDefined": "NP_742104.1:p.[Ser783_Phe784delinsPro;Gly786_Phe787delinsAlaAla;Ile789Ala;Gln791Pro;Lys793_Ala798delinsProArgArgThrTrpMet;Asn800del;Cys802_Tyr803delinsThr;Val806_Ala807delinsThrArg;Cys809_Lys811delinsTrpArgLeu;Val812_Arg813insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS042648" }, { "coordinates": [ { "allele": "", "end": 2578, "referenceAllele": "T", "start": 2577 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.2:c.2401del" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Ser801ProfsTer?", "hgvsWellDefined": "NP_742105.1:p.[Ser801_Phe802delinsPro;Gly804_Phe805delinsAlaAla;Ile807Ala;Gln809Pro;Lys811_Ala816delinsProArgArgThrTrpMet;Asn818del;Cys820_Tyr821delinsThr;Val824_Ala825delinsThrArg;Cys827_Lys829delinsTrpArgLeu;Val830_Arg831insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS042649" }, { "coordinates": [ { "allele": "", "end": 2485, "referenceAllele": "T", "start": 2484 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.3:c.2308del" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Ser770ProfsTer?", "hgvsWellDefined": "NP_742106.1:p.[Ser770_Phe771delinsPro;Gly773_Phe774delinsAlaAla;Ile776Ala;Gln778Pro;Lys780_Ala785delinsProArgArgThrTrpMet;Asn787del;Cys789_Tyr790delinsThr;Val793_Ala794delinsThrArg;Cys796_Lys798delinsTrpArgLeu;Val799_Arg800insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS042650" }, { "coordinates": [ { "allele": "", "end": 2569, "referenceAllele": "T", "start": 2568 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_006723787.1:c.2443del" ], "proteinEffect": { "hgvs": "XP_006723850.1:p.Ser815ProfsTer?", "hgvsWellDefined": "XP_006723850.1:p.[Ser815_Phe816delinsPro;Gly818_Phe819delinsAlaAla;Ile821Ala;Gln823Pro;Lys825_Ala830delinsProArgArgThrTrpMet;Asn832del;Cys834_Tyr835delinsThr;Val838_Ala839delinsThrArg;Cys841_Lys843delinsTrpArgLeu;Val844_Arg845insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS075200" }, { "coordinates": [ { "allele": "", "end": 2635, "referenceAllele": "T", "start": 2634 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528807.1:c.2509del" ], "proteinEffect": { "hgvs": "XP_011527109.1:p.Ser837ProfsTer?", "hgvsWellDefined": "XP_011527109.1:p.[Ser837_Phe838delinsPro;Gly840_Phe841delinsAlaAla;Ile843Ala;Gln845Pro;Lys847_Ala852delinsProArgArgThrTrpMet;Asn854del;Cys856_Tyr857delinsThr;Val860_Ala861delinsThrArg;Cys863_Lys865delinsTrpArgLeu;Val866_Arg867insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS095878" }, { "coordinates": [ { "allele": "", "end": 2632, "referenceAllele": "T", "start": 2631 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528808.1:c.2506del" ], "proteinEffect": { "hgvs": "XP_011527110.1:p.Ser836ProfsTer?", "hgvsWellDefined": "XP_011527110.1:p.[Ser836_Phe837delinsPro;Gly839_Phe840delinsAlaAla;Ile842Ala;Gln844Pro;Lys846_Ala851delinsProArgArgThrTrpMet;Asn853del;Cys855_Tyr856delinsThr;Val859_Ala860delinsThrArg;Cys862_Lys864delinsTrpArgLeu;Val865_Arg866insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS095879" }, { "coordinates": [ { "allele": "", "end": 2605, "referenceAllele": "T", "start": 2604 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528809.1:c.2479del" ], "proteinEffect": { "hgvs": "XP_011527111.1:p.Ser827ProfsTer?", "hgvsWellDefined": "XP_011527111.1:p.[Ser827_Phe828delinsPro;Gly830_Phe831delinsAlaAla;Ile833Ala;Gln835Pro;Lys837_Ala842delinsProArgArgThrTrpMet;Asn844del;Cys846_Tyr847delinsThr;Val850_Ala851delinsThrArg;Cys853_Lys855delinsTrpArgLeu;Val856_Arg857insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS095880" }, { "coordinates": [ { "allele": "", "end": 2581, "referenceAllele": "T", "start": 2580 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.1:c.2455del" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Ser819ProfsTer?", "hgvsWellDefined": "XP_011527112.1:p.[Ser819_Phe820delinsPro;Gly822_Phe823delinsAlaAla;Ile825Ala;Gln827Pro;Lys829_Ala834delinsProArgArgThrTrpMet;Asn836del;Cys838_Tyr839delinsThr;Val842_Ala843delinsThrArg;Cys845_Lys847delinsTrpArgLeu;Val848_Arg849insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS095881" }, { "coordinates": [ { "allele": "", "end": 2551, "referenceAllele": "T", "start": 2550 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.1:c.2425del" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Ser809ProfsTer?", "hgvsWellDefined": "XP_011527113.1:p.[Ser809_Phe810delinsPro;Gly812_Phe813delinsAlaAla;Ile815Ala;Gln817Pro;Lys819_Ala824delinsProArgArgThrTrpMet;Asn826del;Cys828_Tyr829delinsThr;Val832_Ala833delinsThrArg;Cys835_Lys837delinsTrpArgLeu;Val838_Arg839insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS095882" }, { "coordinates": [ { "allele": "", "end": 2524, "referenceAllele": "T", "start": 2523 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528812.1:c.2398del" ], "proteinEffect": { "hgvs": "XP_011527114.1:p.Ser800ProfsTer?", "hgvsWellDefined": "XP_011527114.1:p.[Ser800_Phe801delinsPro;Gly803_Phe804delinsAlaAla;Ile806Ala;Gln808Pro;Lys810_Ala815delinsProArgArgThrTrpMet;Asn817del;Cys819_Tyr820delinsThr;Val823_Ala824delinsThrArg;Cys826_Lys828delinsTrpArgLeu;Val829_Arg830insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS095883" }, { "coordinates": [ { "allele": "", "end": 2509, "referenceAllele": "T", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528813.1:c.2383del" ], "proteinEffect": { "hgvs": "XP_011527115.1:p.Ser795ProfsTer?", "hgvsWellDefined": "XP_011527115.1:p.[Ser795_Phe796delinsPro;Gly798_Phe799delinsAlaAla;Ile801Ala;Gln803Pro;Lys805_Ala810delinsProArgArgThrTrpMet;Asn812del;Cys814_Tyr815delinsThr;Val818_Ala819delinsThrArg;Cys821_Lys823delinsTrpArgLeu;Val824_Arg825insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS095884" }, { "coordinates": [ { "allele": "", "end": 2563, "referenceAllele": "T", "start": 2562 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528814.1:c.1990del" ], "proteinEffect": { "hgvs": "XP_011527116.1:p.Ser664ProfsTer?", "hgvsWellDefined": "XP_011527116.1:p.[Ser664_Phe665delinsPro;Gly667_Phe668delinsAlaAla;Ile670Ala;Gln672Pro;Lys674_Ala679delinsProArgArgThrTrpMet;Asn681del;Cys683_Tyr684delinsThr;Val687_Ala688delinsThrArg;Cys690_Lys692delinsTrpArgLeu;Val693_Arg694insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS095885" }, { "coordinates": [ { "allele": "", "end": 2531, "referenceAllele": "T", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.5:c.2317del" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Ser773ProfsTer?", "hgvsWellDefined": "NP_004509.2:p.[Ser773_Phe774delinsPro;Gly776_Phe777delinsAlaAla;Ile779Ala;Gln781Pro;Lys783_Ala788delinsProArgArgThrTrpMet;Asn790del;Cys792_Tyr793delinsThr;Val796_Ala797delinsThrArg;Cys799_Lys801delinsTrpArgLeu;Val802_Arg803insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS525221" }, { "coordinates": [ { "allele": "", "end": 2561, "referenceAllele": "T", "start": 2560 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.2:c.2347del" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Ser783ProfsTer?", "hgvsWellDefined": "NP_742104.1:p.[Ser783_Phe784delinsPro;Gly786_Phe787delinsAlaAla;Ile789Ala;Gln791Pro;Lys793_Ala798delinsProArgArgThrTrpMet;Asn800del;Cys802_Tyr803delinsThr;Val806_Ala807delinsThrArg;Cys809_Lys811delinsTrpArgLeu;Val812_Arg813insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS526727" }, { "coordinates": [ { "allele": "", "end": 2615, "referenceAllele": "T", "start": 2614 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.3:c.2401del" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Ser801ProfsTer?", "hgvsWellDefined": "NP_742105.1:p.[Ser801_Phe802delinsPro;Gly804_Phe805delinsAlaAla;Ile807Ala;Gln809Pro;Lys811_Ala816delinsProArgArgThrTrpMet;Asn818del;Cys820_Tyr821delinsThr;Val824_Ala825delinsThrArg;Cys827_Lys829delinsTrpArgLeu;Val830_Arg831insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS526728" }, { "coordinates": [ { "allele": "", "end": 2522, "referenceAllele": "T", "start": 2521 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.4:c.2308del" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Ser770ProfsTer?", "hgvsWellDefined": "NP_742106.1:p.[Ser770_Phe771delinsPro;Gly773_Phe774delinsAlaAla;Ile776Ala;Gln778Pro;Lys780_Ala785delinsProArgArgThrTrpMet;Asn787del;Cys789_Tyr790delinsThr;Val793_Ala794delinsThrArg;Cys796_Lys798delinsTrpArgLeu;Val799_Arg800insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS526729" }, { "coordinates": [ { "allele": "", "end": 2613, "referenceAllele": "T", "start": 2612 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.2:c.2455del" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Ser819ProfsTer?", "hgvsWellDefined": "XP_011527112.1:p.[Ser819_Phe820delinsPro;Gly822_Phe823delinsAlaAla;Ile825Ala;Gln827Pro;Lys829_Ala834delinsProArgArgThrTrpMet;Asn836del;Cys838_Tyr839delinsThr;Val842_Ala843delinsThrArg;Cys845_Lys847delinsTrpArgLeu;Val848_Arg849insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS549262" }, { "coordinates": [ { "allele": "", "end": 2583, "referenceAllele": "T", "start": 2582 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.2:c.2425del" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Ser809ProfsTer?", "hgvsWellDefined": "XP_011527113.1:p.[Ser809_Phe810delinsPro;Gly812_Phe813delinsAlaAla;Ile815Ala;Gln817Pro;Lys819_Ala824delinsProArgArgThrTrpMet;Asn826del;Cys828_Tyr829delinsThr;Val832_Ala833delinsThrArg;Cys835_Lys837delinsTrpArgLeu;Val838_Arg839insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS549263" }, { "coordinates": [ { "allele": "", "end": 2610, "referenceAllele": "T", "start": 2609 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027841.2:c.2452del" ], "proteinEffect": { "hgvs": "XP_016883330.1:p.Ser818ProfsTer?", "hgvsWellDefined": "XP_016883330.1:p.[Ser818_Phe819delinsPro;Gly821_Phe822delinsAlaAla;Ile824Ala;Gln826Pro;Lys828_Ala833delinsProArgArgThrTrpMet;Asn835del;Cys837_Tyr838delinsThr;Val841_Ala842delinsThrArg;Cys844_Lys846delinsTrpArgLeu;Val847_Arg848insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577727" }, { "coordinates": [ { "allele": "", "end": 2547, "referenceAllele": "T", "start": 2546 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027842.2:c.2389del" ], "proteinEffect": { "hgvs": "XP_016883331.1:p.Ser797ProfsTer?", "hgvsWellDefined": "XP_016883331.1:p.[Ser797_Phe798delinsPro;Gly800_Phe801delinsAlaAla;Ile803Ala;Gln805Pro;Lys807_Ala812delinsProArgArgThrTrpMet;Asn814del;Cys816_Tyr817delinsThr;Val820_Ala821delinsThrArg;Cys823_Lys825delinsTrpArgLeu;Val826_Arg827insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577728" }, { "coordinates": [ { "allele": "", "end": 2474, "referenceAllele": "T", "start": 2473 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027843.1:c.2386del" ], "proteinEffect": { "hgvs": "XP_016883332.1:p.Ser796ProfsTer?", "hgvsWellDefined": "XP_016883332.1:p.[Ser796_Phe797delinsPro;Gly799_Phe800delinsAlaAla;Ile802Ala;Gln804Pro;Lys806_Ala811delinsProArgArgThrTrpMet;Asn813del;Cys815_Tyr816delinsThr;Val819_Ala820delinsThrArg;Cys822_Lys824delinsTrpArgLeu;Val825_Arg826insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577729" }, { "coordinates": [ { "allele": "", "end": 2502, "referenceAllele": "T", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027844.2:c.2344del" ], "proteinEffect": { "hgvs": "XP_016883333.1:p.Ser782ProfsTer?", "hgvsWellDefined": "XP_016883333.1:p.[Ser782_Phe783delinsPro;Gly785_Phe786delinsAlaAla;Ile788Ala;Gln790Pro;Lys792_Ala797delinsProArgArgThrTrpMet;Asn799del;Cys801_Tyr802delinsThr;Val805_Ala806delinsThrArg;Cys808_Lys810delinsTrpArgLeu;Val811_Arg812insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577730" }, { "coordinates": [ { "allele": "", "end": 2021, "referenceAllele": "T", "start": 2020 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027845.1:c.1417del" ], "proteinEffect": { "hgvs": "XP_016883334.1:p.Ser473ProfsTer?", "hgvsWellDefined": "XP_016883334.1:p.[Ser473_Phe474delinsPro;Gly476_Phe477delinsAlaAla;Ile479Ala;Gln481Pro;Lys483_Ala488delinsProArgArgThrTrpMet;Asn490del;Cys492_Tyr493delinsThr;Val496_Ala497delinsThrArg;Cys499_Lys501delinsTrpArgLeu;Val502_Arg503insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS577731" }, { "coordinates": [ { "allele": "", "end": 2509, "referenceAllele": "T", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.6:c.2317del" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Ser773ProfsTer?", "hgvsWellDefined": "NP_004509.2:p.[Ser773_Phe774delinsPro;Gly776_Phe777delinsAlaAla;Ile779Ala;Gln781Pro;Lys783_Ala788delinsProArgArgThrTrpMet;Asn790del;Cys792_Tyr793delinsThr;Val796_Ala797delinsThrArg;Cys799_Lys801delinsTrpArgLeu;Val802_Arg803insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS696171" }, { "coordinates": [ { "allele": "", "end": 2539, "referenceAllele": "T", "start": 2538 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.3:c.2347del" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Ser783ProfsTer?", "hgvsWellDefined": "NP_742104.1:p.[Ser783_Phe784delinsPro;Gly786_Phe787delinsAlaAla;Ile789Ala;Gln791Pro;Lys793_Ala798delinsProArgArgThrTrpMet;Asn800del;Cys802_Tyr803delinsThr;Val806_Ala807delinsThrArg;Cys809_Lys811delinsTrpArgLeu;Val812_Arg813insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS700477" }, { "coordinates": [ { "allele": "", "end": 2593, "referenceAllele": "T", "start": 2592 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.4:c.2401del" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Ser801ProfsTer?", "hgvsWellDefined": "NP_742105.1:p.[Ser801_Phe802delinsPro;Gly804_Phe805delinsAlaAla;Ile807Ala;Gln809Pro;Lys811_Ala816delinsProArgArgThrTrpMet;Asn818del;Cys820_Tyr821delinsThr;Val824_Ala825delinsThrArg;Cys827_Lys829delinsTrpArgLeu;Val830_Arg831insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS700478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.2401del" }, "RefSeq": { "hgvs": "NM_172107.4:c.2401del" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Ser801ProfsTer?" }, "RefSeq": { "hgvs": "NP_742105.1:p.Ser801ProfsTer?" } } } }, { "coordinates": [ { "allele": "", "end": 2500, "referenceAllele": "T", "start": 2499 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.5:c.2308del" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Ser770ProfsTer?", "hgvsWellDefined": "NP_742106.1:p.[Ser770_Phe771delinsPro;Gly773_Phe774delinsAlaAla;Ile776Ala;Gln778Pro;Lys780_Ala785delinsProArgArgThrTrpMet;Asn787del;Cys789_Tyr790delinsThr;Val793_Ala794delinsThrArg;Cys796_Lys798delinsTrpArgLeu;Val799_Arg800insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS700479" }, { "coordinates": [ { "allele": "", "end": 2647, "referenceAllele": "T", "start": 2646 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_001382235.1:c.2455del" ], "proteinEffect": { "hgvs": "NP_001369164.1:p.Ser819ProfsTer?", "hgvsWellDefined": "NP_001369164.1:p.[Ser819_Phe820delinsPro;Gly822_Phe823delinsAlaAla;Ile825Ala;Gln827Pro;Lys829_Ala834delinsProArgArgThrTrpMet;Asn836del;Cys838_Tyr839delinsThr;Val842_Ala843delinsThrArg;Cys845_Lys847delinsTrpArgLeu;Val848_Arg849insProLysSer]" }, "referenceSequence": "http://reg.genome.network/refseq/RS722196" } ], "type": "nucleotide" }