{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA409653466", "communityStandardTitle": [ "NM_172107.4(KCNQ2):c.773A>T (p.Asn258Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2478031[alleleid]", "alleleId": 2478031, "preferredName": "NM_172107.4(KCNQ2):c.773A>T (p.Asn258Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2500050", "RCV": [ "RCV003224697" ], "variationId": 2500050 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.62073802T>A?assembly=hg19", "id": "chr20:g.62073802T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr20:g.63442449T>A?assembly=hg38", "id": "chr20:g.63442449T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/118192207", "rs": 118192207 } ] }, "genomicAlleles": [ { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 63442449, "referenceAllele": "T", "start": 63442448 } ], "hgvs": [ "NC_000020.11:g.63442449T>A", "CM000682.2:g.63442449T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000068" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 62073802, "referenceAllele": "T", "start": 62073801 } ], "hgvs": [ "NC_000020.10:g.62073802T>A", "CM000682.1:g.62073802T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000044" }, { "chromosome": "20", "coordinates": [ { "allele": "A", "end": 61544246, "referenceAllele": "T", "start": 61544245 } ], "hgvs": [ "NC_000020.9:g.61544246T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000020" }, { "coordinates": [ { "allele": "T", "end": 35192, "referenceAllele": "A", "start": 35191 } ], "hgvs": [ "NG_009004.1:g.35192A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001372" }, { "coordinates": [ { "allele": "T", "end": 35192, "referenceAllele": "A", "start": 35191 } ], "hgvs": [ "NG_009004.2:g.35192A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616122" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000706989.1:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000516702.1:p.Asn258Ile", "hgvsWellDefined": "ENSP00000516702.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS913294" }, { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344425.8:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000345523.5:p.Asn258Ile", "hgvsWellDefined": "ENSP00000345523.5:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS824037" }, { "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.7:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Asn258Ile", "hgvsWellDefined": "ENSP00000352035.2:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS749156", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.773A>T" }, "RefSeq": { "hgvs": "NM_172107.4:c.773A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Asn258Ile" }, "RefSeq": { "hgvs": "NP_742105.1:p.Asn258Ile" } } } }, { "coordinates": [ { "allele": "T", "end": 511, "referenceAllele": "A", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000636255.1:n.511A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762990" }, { "coordinates": [ { "allele": "T", "end": 656, "referenceAllele": "A", "start": 655 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000637193.1:c.254A>T" ], "proteinEffect": { "hgvs": "ENSP00000490734.1:p.Asn85Ile", "hgvsWellDefined": "ENSP00000490734.1:p.Asn85Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS763682" }, { "coordinates": [ { "allele": "T", "end": 153, "referenceAllele": "A", "start": 152 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000638073.1:n.153A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS764320" }, { "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344425.7:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000345523.5:p.Asn258Ile", "hgvsWellDefined": "ENSP00000345523.5:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS261975" }, { "coordinates": [ { "allele": "T", "end": 819, "referenceAllele": "A", "start": 818 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000344462.8:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000339611.4:p.Asn258Ile", "hgvsWellDefined": "ENSP00000339611.4:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS261982" }, { "coordinates": [ { "allele": "T", "end": 431, "referenceAllele": "A", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000357249.6:c.431A>T" ], "proteinEffect": { "hgvs": "ENSP00000349789.3:p.Asn144Ile", "hgvsWellDefined": "ENSP00000349789.3:p.Asn144Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS264035" }, { "coordinates": [ { "allele": "T", "end": 900, "referenceAllele": "A", "start": 899 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000359125.6:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000352035.2:p.Asn258Ile", "hgvsWellDefined": "ENSP00000352035.2:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS264683" }, { "coordinates": [ { "allele": "T", "end": 815, "referenceAllele": "A", "start": 814 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000360480.7:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000353668.3:p.Asn258Ile", "hgvsWellDefined": "ENSP00000353668.3:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS265147" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370221.3:n.899A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS267943" }, { "coordinates": [ { "allele": "T", "end": 908, "referenceAllele": "A", "start": 907 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000370224.5:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000359244.2:p.Asn258Ile", "hgvsWellDefined": "ENSP00000359244.2:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS267945" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "A", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000625514.2:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000486040.1:p.Asn258Ile", "hgvsWellDefined": "ENSP00000486040.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS406588" }, { "coordinates": [ { "allele": "T", "end": 138, "referenceAllele": "A", "start": 137 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000626684.1:c.138A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS406770" }, { "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "A", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000626839.2:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000486706.1:p.Asn258Ile", "hgvsWellDefined": "ENSP00000486706.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS406799" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "A", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629241.2:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000487142.1:p.Asn258Ile", "hgvsWellDefined": "ENSP00000487142.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS407190" }, { "coordinates": [ { "allele": "T", "end": 194, "referenceAllele": "A", "start": 193 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629498.2:c.194A>T" ], "proteinEffect": { "hgvs": "ENSP00000486509.1:p.Asn65Ile", "hgvsWellDefined": "ENSP00000486509.1:p.Asn65Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS407232" }, { "coordinates": [ { "allele": "T", "end": 865, "referenceAllele": "A", "start": 864 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000629676.2:c.773A>T" ], "proteinEffect": { "hgvs": "ENSP00000486194.1:p.Asn258Ile", "hgvsWellDefined": "ENSP00000486194.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS407259" }, { "coordinates": [ { "allele": "T", "end": 598, "referenceAllele": "A", "start": 597 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "ENST00000630274.2:n.598A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS407346" }, { "@id": "http://reg.genome.network/allele/PA2829530338", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.4:c.773A>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Asn258Ile", "hgvsWellDefined": "NP_004509.2:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS029676" }, { "@id": "http://reg.genome.network/allele/PA2830344595", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.1:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Asn258Ile", "hgvsWellDefined": "NP_742104.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS042648" }, { "@id": "http://reg.genome.network/allele/PA2830345770", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.2:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Asn258Ile", "hgvsWellDefined": "NP_742105.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS042649" }, { "@id": "http://reg.genome.network/allele/PA2830346705", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.3:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Asn258Ile", "hgvsWellDefined": "NP_742106.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS042650" }, { "@id": "http://reg.genome.network/allele/PA2580535807", "coordinates": [ { "allele": "T", "end": 950, "referenceAllele": "A", "start": 949 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.1:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Asn258Ile", "hgvsWellDefined": "NP_742107.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS042651" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_006723787.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_006723850.1:p.Asn258Ile", "hgvsWellDefined": "XP_006723850.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS075200" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528807.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527109.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527109.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095878" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528808.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527110.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527110.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095879" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528809.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527111.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527111.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095880" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527112.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095881" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527113.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095882" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528812.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527114.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527114.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095883" }, { "coordinates": [ { "allele": "T", "end": 816, "endIntronDirection": "+", "endIntronOffset": 2210, "referenceAllele": "A", "start": 816, "startIntronDirection": "+", "startIntronOffset": 2209 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528813.1:c.690+2210A>T" ], "proteinEffect": { "hgvs": "XP_011527115.1:n.690+2210A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS095884" }, { "coordinates": [ { "allele": "T", "end": 827, "referenceAllele": "A", "start": 826 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528814.1:c.254A>T" ], "proteinEffect": { "hgvs": "XP_011527116.1:p.Asn85Ile", "hgvsWellDefined": "XP_011527116.1:p.Asn85Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095885" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528815.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527117.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527117.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095886" }, { "coordinates": [ { "allele": "T", "end": 899, "referenceAllele": "A", "start": 898 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528816.1:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527118.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527118.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS095887" }, { "@id": "http://reg.genome.network/allele/PA2829530338", "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "A", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.5:c.773A>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Asn258Ile", "hgvsWellDefined": "NP_004509.2:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS525221" }, { "@id": "http://reg.genome.network/allele/PA2830344595", "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "A", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.2:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Asn258Ile", "hgvsWellDefined": "NP_742104.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526727" }, { "@id": "http://reg.genome.network/allele/PA2830345770", "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "A", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.3:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Asn258Ile", "hgvsWellDefined": "NP_742105.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526728" }, { "@id": "http://reg.genome.network/allele/PA2830346705", "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "A", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.4:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Asn258Ile", "hgvsWellDefined": "NP_742106.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526729" }, { "@id": "http://reg.genome.network/allele/PA2580535807", "coordinates": [ { "allele": "T", "end": 987, "referenceAllele": "A", "start": 986 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.2:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Asn258Ile", "hgvsWellDefined": "NP_742107.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS526730" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "A", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528810.2:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527112.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527112.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS549262" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "A", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_011528811.2:c.773A>T" ], "proteinEffect": { "hgvs": "XP_011527113.1:p.Asn258Ile", "hgvsWellDefined": "XP_011527113.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS549263" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "A", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027841.2:c.773A>T" ], "proteinEffect": { "hgvs": "XP_016883330.1:p.Asn258Ile", "hgvsWellDefined": "XP_016883330.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS577727" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "A", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027842.2:c.773A>T" ], "proteinEffect": { "hgvs": "XP_016883331.1:p.Asn258Ile", "hgvsWellDefined": "XP_016883331.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS577728" }, { "coordinates": [ { "allele": "T", "end": 792, "referenceAllele": "A", "start": 791 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027843.1:c.704A>T" ], "proteinEffect": { "hgvs": "XP_016883332.1:p.Asn235Ile", "hgvsWellDefined": "XP_016883332.1:p.Asn235Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS577729" }, { "coordinates": [ { "allele": "T", "end": 931, "referenceAllele": "A", "start": 930 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "XM_017027844.2:c.773A>T" ], "proteinEffect": { "hgvs": "XP_016883333.1:p.Asn258Ile", "hgvsWellDefined": "XP_016883333.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS577730" }, { "@id": "http://reg.genome.network/allele/PA2829530338", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_004518.6:c.773A>T" ], "proteinEffect": { "hgvs": "NP_004509.2:p.Asn258Ile", "hgvsWellDefined": "NP_004509.2:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS696171" }, { "@id": "http://reg.genome.network/allele/PA2830344595", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172106.3:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742104.1:p.Asn258Ile", "hgvsWellDefined": "NP_742104.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS700477" }, { "@id": "http://reg.genome.network/allele/PA2830345770", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172107.4:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742105.1:p.Asn258Ile", "hgvsWellDefined": "NP_742105.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS700478", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359125.7:c.773A>T" }, "RefSeq": { "hgvs": "NM_172107.4:c.773A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352035.2:p.Asn258Ile" }, "RefSeq": { "hgvs": "NP_742105.1:p.Asn258Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2830346705", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172108.5:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742106.1:p.Asn258Ile", "hgvsWellDefined": "NP_742106.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS700479" }, { "@id": "http://reg.genome.network/allele/PA2580535807", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_172109.3:c.773A>T" ], "proteinEffect": { "hgvs": "NP_742107.1:p.Asn258Ile", "hgvsWellDefined": "NP_742107.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS700480" }, { "@id": "http://reg.genome.network/allele/PA2828886663", "coordinates": [ { "allele": "T", "end": 965, "referenceAllele": "A", "start": 964 } ], "gene": "http://reg.genome.network/gene/GN006296", "geneNCBI_id": 3785, "geneSymbol": "KCNQ2", "hgvs": [ "NM_001382235.1:c.773A>T" ], "proteinEffect": { "hgvs": "NP_001369164.1:p.Asn258Ile", "hgvsWellDefined": "NP_001369164.1:p.Asn258Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS722196" } ], "type": "nucleotide" }