{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA10654796", "communityStandardTitle": [ "NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4595459", "active": true, "id": "COSM4595459" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4595460", "active": true, "id": "COSM4595460" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4595461", "active": true, "id": "COSM4595461" }, { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4595462", "active": true, "id": "COSM4595462" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=353993[alleleid]", "alleleId": 353993, "preferredName": "NM_172107.4(KCNQ2):c.1073C>T (p.Ser358Phe)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/369783", "RCV": [ "RCV000678164" ], "variationId": 369783 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62065207G>A?assembly=hg19", "id": "chr20:g.62065207G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63433854G>A?assembly=hg38", "id": "chr20:g.63433854G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516110", "rs": 1057516110 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 63433854, "referenceAllele": "G", "start": 63433853 } ], "hgvs": [ "NC_000020.11:g.63433854G>A", "CM000682.2:g.63433854G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 62065207, "referenceAllele": "G", "start": 62065206 } ], "hgvs": [ "NC_000020.10:g.62065207G>A", "CM000682.1:g.62065207G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 61535651, "referenceAllele": "G", "start": 61535650 } ], "hgvs": [ "NC_000020.9:g.61535651G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 43787, "referenceAllele": "C", "start": 43786 } ], "hgvs": [ "NG_009004.1:g.43787C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001372" }, { "coordinates": [ { "allele": "T", "end": 43787, "referenceAllele": "C", "start": 43786 } ], "hgvs": [ "NG_009004.2:g.43787C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616122" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000706989.1:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000516702.1:p.Ser358Phe", "hgvsWellDefined": "ENSP00000516702.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS913294" }, { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344425.8:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000345523.5:p.Ser358Phe", "hgvsWellDefined": "ENSP00000345523.5:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS824037" }, { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.7:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Ser358Phe", "hgvsWellDefined": "ENSP00000352035.2:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS749156", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.1073C>T" }, "RefSeq": { "hgvs": "NM_172107.4:c.1073C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Ser358Phe" }, "RefSeq": { "hgvs": "NP_742105.1:p.Ser358Phe" } } } }, { "coordinates": [ { "allele": "T", "end": 811, "referenceAllele": "C", "start": 810 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000636255.1:n.811C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762990" }, { "coordinates": [ { "allele": "T", "end": 956, "referenceAllele": "C", "start": 955 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000637193.1:c.554C>T" ], "proteinEffect": { "hgvs": "ENSP00000490734.1:p.Ser185Phe", "hgvsWellDefined": "ENSP00000490734.1:p.Ser185Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS763682" }, { "coordinates": [ { "allele": "T", "end": 23, "referenceAllele": "C", "start": 22 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000637890.1:n.23C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764186" }, { "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344425.7:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000345523.5:p.Ser358Phe", "hgvsWellDefined": "ENSP00000345523.5:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS261975" }, { "coordinates": [ { "allele": "T", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344462.8:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000339611.4:p.Ser358Phe", "hgvsWellDefined": "ENSP00000339611.4:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS261982" }, { "coordinates": [ { "allele": "T", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000357249.6:c.731C>T" ], "proteinEffect": { "hgvs": "ENSP00000349789.3:p.Ser244Phe", "hgvsWellDefined": "ENSP00000349789.3:p.Ser244Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS264035" }, { "coordinates": [ { "allele": "T", "end": 1200, "referenceAllele": "C", "start": 1199 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.6:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Ser358Phe", "hgvsWellDefined": "ENSP00000352035.2:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS264683" }, { "coordinates": [ { "allele": "T", "end": 1115, "referenceAllele": "C", "start": 1114 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000360480.7:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000353668.3:p.Ser358Phe", "hgvsWellDefined": "ENSP00000353668.3:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS265147" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370221.3:n.1199C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS267943" }, { "coordinates": [ { "allele": "T", "end": 1208, "referenceAllele": "C", "start": 1207 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370224.5:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000359244.2:p.Ser358Phe", "hgvsWellDefined": "ENSP00000359244.2:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS267945" }, { "coordinates": [ { "allele": "T", "end": 424, "referenceAllele": "C", "start": 423 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000482957.1:n.424C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS322537" }, { "coordinates": [ { "allele": "T", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000625514.2:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000486040.1:p.Ser358Phe", "hgvsWellDefined": "ENSP00000486040.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS406588" }, { "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000626839.2:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000486706.1:p.Ser358Phe", "hgvsWellDefined": "ENSP00000486706.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS406799" }, { "coordinates": [ { "allele": "T", "end": 217, "referenceAllele": "C", "start": 216 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000627221.2:c.217C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406856" }, { "coordinates": [ { "allele": "T", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629241.2:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000487142.1:p.Ser358Phe", "hgvsWellDefined": "ENSP00000487142.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS407190" }, { "coordinates": [ { "allele": "T", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629498.2:c.546C>T" ], "proteinEffect": { "hgvs": "ENSP00000486509.1:n.546C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS407232" }, { "coordinates": [ { "allele": "T", "end": 1165, "referenceAllele": "C", "start": 1164 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629676.2:c.1073C>T" ], "proteinEffect": { "hgvs": "ENSP00000486194.1:p.Ser358Phe", "hgvsWellDefined": "ENSP00000486194.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS407259" }, { "@id": "http://reg.genome.network/allele/PA2829530879", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.4:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Ser358Phe", "hgvsWellDefined": "NP_004509.2:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS029676" }, { "@id": "http://reg.genome.network/allele/PA2830344833", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.1:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Ser358Phe", "hgvsWellDefined": "NP_742104.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS042648" }, { "@id": "http://reg.genome.network/allele/PA645422475", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.2:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Ser358Phe", "hgvsWellDefined": "NP_742105.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS042649" }, { "@id": "http://reg.genome.network/allele/PA2830346941", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.3:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Ser358Phe", "hgvsWellDefined": "NP_742106.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS042650" }, { "@id": "http://reg.genome.network/allele/PA916062704", "coordinates": [ { "allele": "T", "end": 1250, "referenceAllele": "C", "start": 1249 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.1:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Ser358Phe", "hgvsWellDefined": "NP_742107.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS042651" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_006723787.1:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_006723850.1:p.Ser358Phe", "hgvsWellDefined": "XP_006723850.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS075200" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528807.1:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527109.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527109.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095878" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528808.1:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527110.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527110.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095879" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528809.1:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527111.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527111.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095880" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.1:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527112.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095881" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.1:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527113.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095882" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528812.1:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527114.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527114.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095883" }, { "coordinates": [ { "allele": "T", "end": 1073, "referenceAllele": "C", "start": 1072 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528813.1:c.947C>T" ], "proteinEffect": { "hgvs": "XP_011527115.1:p.Ser316Phe", "hgvsWellDefined": "XP_011527115.1:p.Ser316Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095884" }, { "coordinates": [ { "allele": "T", "end": 1127, "referenceAllele": "C", "start": 1126 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528814.1:c.554C>T" ], "proteinEffect": { "hgvs": "XP_011527116.1:p.Ser185Phe", "hgvsWellDefined": "XP_011527116.1:p.Ser185Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095885" }, { "coordinates": [ { "allele": "T", "end": 1199, "referenceAllele": "C", "start": 1198 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528815.1:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527117.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527117.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS095886" }, { "@id": "http://reg.genome.network/allele/PA2829530879", "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.5:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Ser358Phe", "hgvsWellDefined": "NP_004509.2:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS525221" }, { "@id": "http://reg.genome.network/allele/PA2830344833", "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.2:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Ser358Phe", "hgvsWellDefined": "NP_742104.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS526727" }, { "@id": "http://reg.genome.network/allele/PA645422475", "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.3:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Ser358Phe", "hgvsWellDefined": "NP_742105.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS526728" }, { "@id": "http://reg.genome.network/allele/PA2830346941", "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.4:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Ser358Phe", "hgvsWellDefined": "NP_742106.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS526729" }, { "@id": "http://reg.genome.network/allele/PA916062704", "coordinates": [ { "allele": "T", "end": 1287, "referenceAllele": "C", "start": 1286 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.2:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Ser358Phe", "hgvsWellDefined": "NP_742107.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS526730" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.2:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527112.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS549262" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.2:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Ser358Phe", "hgvsWellDefined": "XP_011527113.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS549263" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027841.2:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_016883330.1:p.Ser358Phe", "hgvsWellDefined": "XP_016883330.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS577727" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027842.2:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_016883331.1:p.Ser358Phe", "hgvsWellDefined": "XP_016883331.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS577728" }, { "coordinates": [ { "allele": "T", "end": 1092, "referenceAllele": "C", "start": 1091 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027843.1:c.1004C>T" ], "proteinEffect": { "hgvs": "XP_016883332.1:p.Ser335Phe", "hgvsWellDefined": "XP_016883332.1:p.Ser335Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS577729" }, { "coordinates": [ { "allele": "T", "end": 1231, "referenceAllele": "C", "start": 1230 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027844.2:c.1073C>T" ], "proteinEffect": { "hgvs": "XP_016883333.1:p.Ser358Phe", "hgvsWellDefined": "XP_016883333.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS577730" }, { "@id": "http://reg.genome.network/allele/PA2829530879", "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.6:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Ser358Phe", "hgvsWellDefined": "NP_004509.2:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS696171" }, { "@id": "http://reg.genome.network/allele/PA2830344833", "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.3:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Ser358Phe", "hgvsWellDefined": "NP_742104.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS700477" }, { "@id": "http://reg.genome.network/allele/PA645422475", "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.4:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Ser358Phe", "hgvsWellDefined": "NP_742105.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS700478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.1073C>T" }, "RefSeq": { "hgvs": "NM_172107.4:c.1073C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Ser358Phe" }, "RefSeq": { "hgvs": "NP_742105.1:p.Ser358Phe" } } } }, { "@id": "http://reg.genome.network/allele/PA2830346941", "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.5:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Ser358Phe", "hgvsWellDefined": "NP_742106.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS700479" }, { "@id": "http://reg.genome.network/allele/PA916062704", "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.3:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Ser358Phe", "hgvsWellDefined": "NP_742107.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS700480" }, { "coordinates": [ { "allele": "T", "end": 1265, "referenceAllele": "C", "start": 1264 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_001382235.1:c.1073C>T" ], "proteinEffect": { "hgvs": "NP_001369164.1:p.Ser358Phe", "hgvsWellDefined": "NP_001369164.1:p.Ser358Phe" }, "referenceSequence": "http://reg.genome.network/refseq/RS722196" } ], "type": "nucleotide" }