{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA11854003", "communityStandardTitle": [ "NM_001148.6(ANK2):c.3125+124C>A" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=660244[alleleid]", "alleleId": 660244, "preferredName": "NM_001148.6(ANK2):c.3125+124C>A" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/672183", "RCV": [ "RCV000831412" ], "variationId": 672183 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.114251750C>A?assembly=hg19", "id": "chr4:g.114251750C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr4:g.113330594C>A?assembly=hg38", "id": "chr4:g.113330594C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/9307389", "rs": 9307389 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-114251750-C-A?dataset=gnomad_r2_1", "id": "4-114251750-C-A", "variant": "4:114251750 C / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-113330594-C-A?dataset=gnomad_r3", "id": "4-113330594-C-A", "variant": "4:113330594 C / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/4-113330594-C-A?dataset=gnomad_r4", "id": "4-113330594-C-A", "variant": "4:113330594 C / A" } ] }, "genomicAlleles": [ { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 113330594, "referenceAllele": "C", "start": 113330593 } ], "hgvs": [ "NC_000004.12:g.113330594C>A", "CM000666.2:g.113330594C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000052" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 114251750, "referenceAllele": "C", "start": 114251749 } ], "hgvs": [ "NC_000004.11:g.114251750C>A", "CM000666.1:g.114251750C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000028" }, { "chromosome": "4", "coordinates": [ { "allele": "A", "end": 114471199, "referenceAllele": "C", "start": 114471198 } ], "hgvs": [ "NC_000004.10:g.114471199C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000004" }, { "coordinates": [ { "allele": "A", "end": 517512, "referenceAllele": "C", "start": 517511 } ], "hgvs": [ "NG_009006.2:g.517512C>A", "LRG_327:g.517512C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS001374" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3516, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3516, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000506344.6:c.3266+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000422888.2:n.3266+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS905500" }, { "coordinates": [ { "allele": "A", "end": 3487, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3487, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000705785.1:c.3206+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000516169.1:n.3206+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS912604" }, { "coordinates": [ { "allele": "A", "end": 861, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 861, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000681990.1:n.861+124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS826990" }, { "coordinates": [ { "allele": "A", "end": 6487, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 6487, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000682189.1:n.6487+124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS827186" }, { "coordinates": [ { "allele": "A", "end": 3385, "referenceAllele": "C", "start": 3384 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683310.1:n.3385C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828291" }, { "coordinates": [ { "allele": "A", "end": 840, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 840, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683662.1:n.840+124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828633" }, { "coordinates": [ { "allele": "A", "end": 2237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 2237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683723.1:n.2237+124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828694" }, { "coordinates": [ { "allele": "A", "end": 1505, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1505, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000683826.1:n.1505+124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS828794" }, { "coordinates": [ { "allele": "A", "end": 851, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 851, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000684225.1:n.851+124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829182" }, { "coordinates": [ { "allele": "A", "end": 1269, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1269, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000684470.1:n.1269+124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829424" }, { "coordinates": [ { "allele": "A", "end": 343, "referenceAllele": "C", "start": 342 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000684591.1:n.343C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829543" }, { "coordinates": [ { "allele": "A", "end": 3201, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3201, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000357077.9:c.3125+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000349588.4:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS748888", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357077.9:c.3125+124C>A" }, "RefSeq": { "hgvs": "NM_001148.6:c.3125+124C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349588.4:n.3125+124C>A" }, "RefSeq": { "hgvs": "NP_001139.3:n.3125+124C>A" } } } }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000503423.6:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000421011.2:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS757975" }, { "coordinates": [ { "allele": "A", "end": 900, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 900, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000505342.6:c.611+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000422498.2:n.611+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS758050" }, { "coordinates": [ { "allele": "A", "end": 3193, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3193, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671704.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500926.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773150" }, { "coordinates": [ { "allele": "A", "end": 3332, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3332, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671727.1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500102.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773153" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671756.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500712.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773162" }, { "coordinates": [ { "allele": "A", "end": 3368, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3368, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671762.1:c.3161+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500954.1:n.3161+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773163" }, { "coordinates": [ { "allele": "A", "end": 3272, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3272, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671793.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499928.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773173" }, { "coordinates": [ { "allele": "A", "end": 3297, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3297, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671809.1:c.3098+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500872.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773175" }, { "coordinates": [ { "allele": "A", "end": 3272, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3272, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671825.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500459.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773180" }, { "coordinates": [ { "allele": "A", "end": 3163, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3163, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671854.1:c.2963+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500833.1:n.2963+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773186" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671863.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500855.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773190" }, { "coordinates": [ { "allele": "A", "end": 3041, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3041, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671882.1:c.3041+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499887.1:n.3041+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773199" }, { "coordinates": [ { "allele": "A", "end": 3039, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3039, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671893.1:c.2840+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499986.1:n.2840+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773204" }, { "coordinates": [ { "allele": "A", "end": 3237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671906.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499953.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773207" }, { "coordinates": [ { "allele": "A", "end": 3171, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3171, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671951.1:c.2939+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500528.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773220" }, { "coordinates": [ { "allele": "A", "end": 3763, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3763, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000671971.1:c.3170+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499832.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773226" }, { "coordinates": [ { "allele": "A", "end": 3242, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3242, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672045.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499959.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773249" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672068.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499902.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773258" }, { "coordinates": [ { "allele": "A", "end": 3248, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3248, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672088.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499837.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773265" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672090.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500540.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773267" }, { "coordinates": [ { "allele": "A", "end": 3273, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3273, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672177.1:c.3074+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500918.1:n.3074+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773299" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672209.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499982.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773310" }, { "coordinates": [ { "allele": "A", "end": 3148, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3148, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672221.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500473.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773311" }, { "coordinates": [ { "allele": "A", "end": 3799, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3799, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672240.1:c.3206+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500548.1:n.3206+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773315" }, { "coordinates": [ { "allele": "A", "end": 3246, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3246, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672246.1:c.3047+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499990.1:n.3047+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773317" }, { "coordinates": [ { "allele": "A", "end": 3206, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3206, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672251.1:c.3026+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500580.1:n.3026+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773319" }, { "coordinates": [ { "allele": "A", "end": 3272, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3272, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672312.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500378.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773340" }, { "coordinates": [ { "allele": "A", "end": 3272, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3272, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672315.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500780.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773343" }, { "coordinates": [ { "allele": "A", "end": 3199, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3199, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672350.1:c.2999+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500420.1:n.2999+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773355" }, { "coordinates": [ { "allele": "A", "end": 3211, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3211, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672356.1:c.2939+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500544.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773359" }, { "coordinates": [ { "allele": "A", "end": 3297, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3297, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672362.1:c.3098+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500522.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773362" }, { "coordinates": [ { "allele": "A", "end": 3332, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3332, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672366.1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500937.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773364" }, { "coordinates": [ { "allele": "A", "end": 3272, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3272, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672402.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500881.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773374" }, { "coordinates": [ { "allele": "A", "end": 1247, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1247, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672411.1:c.788+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499979.1:n.788+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773377" }, { "coordinates": [ { "allele": "A", "end": 3332, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3332, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672502.1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499870.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773402" }, { "coordinates": [ { "allele": "A", "end": 3163, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3163, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672684.1:c.2963+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499943.1:n.2963+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773457" }, { "coordinates": [ { "allele": "A", "end": 3272, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3272, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672696.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499828.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773459" }, { "coordinates": [ { "allele": "A", "end": 3238, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3238, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672731.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500908.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773470" }, { "coordinates": [ { "allele": "A", "end": 3138, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3138, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672759.1:c.2939+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499881.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773480" }, { "coordinates": [ { "allele": "A", "end": 3223, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3223, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672779.1:c.3170+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499869.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773486" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672793.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500150.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773490" }, { "coordinates": [ { "allele": "A", "end": 3272, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3272, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672830.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500222.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773506" }, { "coordinates": [ { "allele": "A", "end": 3206, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3206, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672854.1:c.3026+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500311.1:n.3026+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773513" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672880.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500866.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773527" }, { "coordinates": [ { "allele": "A", "end": 900, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 900, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672915.1:c.611+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500622.1:n.611+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773540" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672930.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499913.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773546" }, { "coordinates": [ { "allele": "A", "end": 3163, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3163, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672934.1:c.2963+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500645.1:n.2963+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773548" }, { "coordinates": [ { "allele": "A", "end": 3289, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3289, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672955.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500527.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773554" }, { "coordinates": [ { "allele": "A", "end": 3297, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3297, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672965.1:c.3098+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499891.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773557" }, { "coordinates": [ { "allele": "A", "end": 2788, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 2788, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672986.1:c.2642+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499967.1:n.2642+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773564" }, { "coordinates": [ { "allele": "A", "end": 3297, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3297, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000672990.1:c.3098+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500275.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773566" }, { "coordinates": [ { "allele": "A", "end": 3272, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3272, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673044.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500933.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773579" }, { "coordinates": [ { "allele": "A", "end": 896, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 896, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673048.1:c.752+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500832.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773582" }, { "coordinates": [ { "allele": "A", "end": 3138, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3138, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673109.1:c.2939+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500265.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773590" }, { "coordinates": [ { "allele": "A", "end": 1225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673231.1:c.788+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500111.1:n.788+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773623" }, { "coordinates": [ { "allele": "A", "end": 3763, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3763, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673240.1:c.3170+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000499996.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773629" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673255.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500423.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773636" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673298.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500245.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773644" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673334.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500854.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773653" }, { "coordinates": [ { "allele": "A", "end": 1124, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1124, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673353.1:c.752+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500007.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773656" }, { "coordinates": [ { "allele": "A", "end": 3763, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3763, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673363.1:c.3170+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500539.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773659" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673430.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500269.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773677" }, { "coordinates": [ { "allele": "A", "end": 3222, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3222, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673453.1:c.3023+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500112.1:n.3023+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773688" }, { "coordinates": [ { "allele": "A", "end": 3380, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3380, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673536.1:c.2732+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500524.1:n.2732+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773715" }, { "coordinates": [ { "allele": "A", "end": 1048, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1048, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673538.1:c.752+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500842.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773716" }, { "coordinates": [ { "allele": "A", "end": 3199, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3199, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673546.1:c.2999+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500843.1:n.2999+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773717" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673555.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500947.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773720" }, { "coordinates": [ { "allele": "A", "end": 3199, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3199, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673573.1:c.2999+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000500883.1:n.2999+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773726" }, { "coordinates": [ { "allele": "A", "end": 2882, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 2882, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000673943.1:c.2882+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000501090.1:n.2882+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS773995" }, { "coordinates": [ { "allele": "A", "end": 3125, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3125, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000264366.10:c.3125+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000264366.6:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS251486" }, { "coordinates": [ { "allele": "A", "end": 3178, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3178, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000357077.8:c.3125+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000349588.4:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS263974" }, { "coordinates": [ { "allele": "A", "end": 3178, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3178, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000394537.7:c.3125+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000378044.3:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS276213" }, { "coordinates": [ { "allele": "A", "end": 3257, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3257, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000503271.5:c.3062+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000423799.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS335622" }, { "coordinates": [ { "allele": "A", "end": 3158, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3158, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000503423.5:c.2963+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000421011.1:n.2963+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS335741" }, { "coordinates": [ { "allele": "A", "end": 3249, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3249, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000504454.5:c.3170+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000424722.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS336508" }, { "coordinates": [ { "allele": "A", "end": 3293, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3293, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000506722.5:c.3098+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000421067.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS338202" }, { "coordinates": [ { "allele": "A", "end": 1067, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1067, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000509550.5:c.752+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000426944.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS340285" }, { "coordinates": [ { "allele": "A", "end": 261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000514960.5:c.261+124C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS344314" }, { "coordinates": [ { "allele": "A", "end": 3038, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3038, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "ENST00000634436.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "ENSP00000489091.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS407825" }, { "coordinates": [ { "allele": "A", "end": 3319, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3319, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001127493.1:c.3098+124C>A", "LRG_327t2:c.3098+124C>A" ], "proteinEffect": { "hgvs": "NP_001120965.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS011627" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001148.4:c.3125+124C>A", "LRG_327t1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_001139.3:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS013986" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_020977.3:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_066187.2:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS036734" }, { "coordinates": [ { "allele": "A", "end": 3505, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3505, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_005262942.3:c.3257+124C>A" ], "proteinEffect": { "hgvs": "XP_005262999.1:n.3257+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS063624" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_005262945.1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "XP_005263002.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS063625" }, { "coordinates": [ { "allele": "A", "end": 3457, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3457, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_005262948.3:c.3221+124C>A" ], "proteinEffect": { "hgvs": "XP_005263005.1:n.3221+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS063626" }, { "coordinates": [ { "allele": "A", "end": 3559, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3559, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714188.2:c.3311+124C>A" ], "proteinEffect": { "hgvs": "XP_006714251.1:n.3311+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070533" }, { "coordinates": [ { "allele": "A", "end": 3523, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3523, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714189.2:c.3275+124C>A" ], "proteinEffect": { "hgvs": "XP_006714252.1:n.3275+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070534" }, { "coordinates": [ { "allele": "A", "end": 3548, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3548, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714190.2:c.3311+124C>A" ], "proteinEffect": { "hgvs": "XP_006714253.1:n.3311+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070535" }, { "coordinates": [ { "allele": "A", "end": 3548, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3548, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714191.2:c.3311+124C>A" ], "proteinEffect": { "hgvs": "XP_006714254.1:n.3311+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070536" }, { "coordinates": [ { "allele": "A", "end": 3512, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3512, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714192.2:c.3275+124C>A" ], "proteinEffect": { "hgvs": "XP_006714255.1:n.3275+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070537" }, { "coordinates": [ { "allele": "A", "end": 3548, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3548, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714193.2:c.3311+124C>A" ], "proteinEffect": { "hgvs": "XP_006714256.1:n.3311+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070538" }, { "coordinates": [ { "allele": "A", "end": 3499, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3499, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_006714194.2:c.3251+124C>A" ], "proteinEffect": { "hgvs": "XP_006714257.1:n.3251+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS070539" }, { "coordinates": [ { "allele": "A", "end": 3333, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3333, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_011531891.1:c.3197+124C>A" ], "proteinEffect": { "hgvs": "XP_011530193.1:n.3197+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS098922" }, { "coordinates": [ { "allele": "A", "end": 3405, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3405, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001127493.2:c.3098+124C>A" ], "proteinEffect": { "hgvs": "NP_001120965.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS511409" }, { "coordinates": [ { "allele": "A", "end": 3440, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3440, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001148.5:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_001139.3:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS511622" }, { "coordinates": [ { "allele": "A", "end": 3452, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3452, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354225.1:c.3137+124C>A" ], "proteinEffect": { "hgvs": "NP_001341154.1:n.3137+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522233" }, { "coordinates": [ { "allele": "A", "end": 3440, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3440, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354228.1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_001341157.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522236" }, { "coordinates": [ { "allele": "A", "end": 3796, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3796, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354230.1:c.3203+124C>A" ], "proteinEffect": { "hgvs": "NP_001341159.1:n.3203+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522238" }, { "coordinates": [ { "allele": "A", "end": 3760, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3760, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354231.1:c.3167+124C>A" ], "proteinEffect": { "hgvs": "NP_001341160.1:n.3167+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522239" }, { "coordinates": [ { "allele": "A", "end": 3476, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3476, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354232.1:c.3161+124C>A" ], "proteinEffect": { "hgvs": "NP_001341161.1:n.3161+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522240" }, { "coordinates": [ { "allele": "A", "end": 3437, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3437, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354235.1:c.3122+124C>A" ], "proteinEffect": { "hgvs": "NP_001341164.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522243" }, { "coordinates": [ { "allele": "A", "end": 3437, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3437, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354236.1:c.3122+124C>A" ], "proteinEffect": { "hgvs": "NP_001341165.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522244" }, { "coordinates": [ { "allele": "A", "end": 3796, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3796, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354237.1:c.3203+124C>A" ], "proteinEffect": { "hgvs": "NP_001341166.1:n.3203+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522245" }, { "coordinates": [ { "allele": "A", "end": 3402, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3402, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354239.1:c.3095+124C>A" ], "proteinEffect": { "hgvs": "NP_001341168.1:n.3095+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522247" }, { "coordinates": [ { "allele": "A", "end": 3763, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3763, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354240.1:c.3170+124C>A" ], "proteinEffect": { "hgvs": "NP_001341169.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522248" }, { "coordinates": [ { "allele": "A", "end": 3485, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3485, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354241.1:c.3170+124C>A" ], "proteinEffect": { "hgvs": "NP_001341170.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522249" }, { "coordinates": [ { "allele": "A", "end": 3760, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3760, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354242.1:c.3167+124C>A" ], "proteinEffect": { "hgvs": "NP_001341171.1:n.3167+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522250" }, { "coordinates": [ { "allele": "A", "end": 3369, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3369, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354243.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341172.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522251" }, { "coordinates": [ { "allele": "A", "end": 3366, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3366, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354244.1:c.3059+124C>A" ], "proteinEffect": { "hgvs": "NP_001341173.1:n.3059+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522252" }, { "coordinates": [ { "allele": "A", "end": 3377, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3377, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354245.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341174.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522253" }, { "coordinates": [ { "allele": "A", "end": 3437, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3437, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354246.1:c.3122+124C>A" ], "proteinEffect": { "hgvs": "NP_001341175.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522254" }, { "coordinates": [ { "allele": "A", "end": 3345, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3345, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354249.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341178.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522257" }, { "coordinates": [ { "allele": "A", "end": 3402, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3402, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354252.1:c.3095+124C>A" ], "proteinEffect": { "hgvs": "NP_001341181.1:n.3095+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522260" }, { "coordinates": [ { "allele": "A", "end": 3306, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3306, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354253.1:c.2999+124C>A" ], "proteinEffect": { "hgvs": "NP_001341182.1:n.2999+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522261" }, { "coordinates": [ { "allele": "A", "end": 3381, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3381, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354254.1:c.3074+124C>A" ], "proteinEffect": { "hgvs": "NP_001341183.1:n.3074+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522262" }, { "coordinates": [ { "allele": "A", "end": 3369, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3369, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354255.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341184.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522263" }, { "coordinates": [ { "allele": "A", "end": 3366, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3366, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354256.1:c.3059+124C>A" ], "proteinEffect": { "hgvs": "NP_001341185.1:n.3059+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522264" }, { "coordinates": [ { "allele": "A", "end": 3270, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3270, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354257.1:c.2963+124C>A" ], "proteinEffect": { "hgvs": "NP_001341186.1:n.2963+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522265" }, { "coordinates": [ { "allele": "A", "end": 3440, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3440, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354258.1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_001341187.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522266" }, { "coordinates": [ { "allele": "A", "end": 3246, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3246, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354260.1:c.2939+124C>A" ], "proteinEffect": { "hgvs": "NP_001341189.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522268" }, { "coordinates": [ { "allele": "A", "end": 3271, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3271, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354261.1:c.3083+124C>A" ], "proteinEffect": { "hgvs": "NP_001341190.1:n.3083+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522269" }, { "coordinates": [ { "allele": "A", "end": 3369, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3369, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354262.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341191.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522270" }, { "coordinates": [ { "allele": "A", "end": 3226, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3226, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354264.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341193.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522272" }, { "coordinates": [ { "allele": "A", "end": 3437, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3437, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354265.1:c.3122+124C>A" ], "proteinEffect": { "hgvs": "NP_001341194.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522273" }, { "coordinates": [ { "allele": "A", "end": 3345, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3345, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354266.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341195.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522274" }, { "coordinates": [ { "allele": "A", "end": 3226, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3226, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354267.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341196.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522275" }, { "coordinates": [ { "allele": "A", "end": 3341, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3341, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354268.1:c.3026+124C>A" ], "proteinEffect": { "hgvs": "NP_001341197.1:n.3026+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522276" }, { "coordinates": [ { "allele": "A", "end": 3040, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3040, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354269.1:c.2912+124C>A" ], "proteinEffect": { "hgvs": "NP_001341198.1:n.2912+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522277" }, { "coordinates": [ { "allele": "A", "end": 3306, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3306, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354270.1:c.2999+124C>A" ], "proteinEffect": { "hgvs": "NP_001341199.1:n.2999+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522278" }, { "coordinates": [ { "allele": "A", "end": 3127, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3127, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354271.1:c.2939+124C>A" ], "proteinEffect": { "hgvs": "NP_001341200.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522279" }, { "coordinates": [ { "allele": "A", "end": 3402, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3402, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354272.1:c.3095+124C>A" ], "proteinEffect": { "hgvs": "NP_001341201.1:n.3095+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522280" }, { "coordinates": [ { "allele": "A", "end": 3239, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3239, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354273.1:c.2924+124C>A" ], "proteinEffect": { "hgvs": "NP_001341202.1:n.2924+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522281" }, { "coordinates": [ { "allele": "A", "end": 3330, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3330, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354274.1:c.3023+124C>A" ], "proteinEffect": { "hgvs": "NP_001341203.1:n.3023+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522282" }, { "coordinates": [ { "allele": "A", "end": 3369, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3369, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354275.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341204.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522283" }, { "coordinates": [ { "allele": "A", "end": 3345, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3345, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354276.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341205.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522284" }, { "coordinates": [ { "allele": "A", "end": 3147, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3147, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354277.1:c.2840+124C>A" ], "proteinEffect": { "hgvs": "NP_001341206.1:n.2840+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522285" }, { "coordinates": [ { "allele": "A", "end": 1210, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1210, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354278.1:c.752+124C>A" ], "proteinEffect": { "hgvs": "NP_001341207.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522286" }, { "coordinates": [ { "allele": "A", "end": 1246, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1246, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354279.1:c.788+124C>A" ], "proteinEffect": { "hgvs": "NP_001341208.1:n.788+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522287" }, { "coordinates": [ { "allele": "A", "end": 1210, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1210, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354280.1:c.752+124C>A" ], "proteinEffect": { "hgvs": "NP_001341209.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522288" }, { "coordinates": [ { "allele": "A", "end": 1210, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1210, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354281.1:c.752+124C>A" ], "proteinEffect": { "hgvs": "NP_001341210.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522289" }, { "coordinates": [ { "allele": "A", "end": 1246, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1246, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354282.1:c.788+124C>A" ], "proteinEffect": { "hgvs": "NP_001341211.1:n.788+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS522290" }, { "coordinates": [ { "allele": "A", "end": 3440, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3440, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_020977.4:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_066187.2:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS526026" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_005262945.3:c.3125+124C>A" ], "proteinEffect": { "hgvs": "XP_005263002.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS535578" }, { "coordinates": [ { "allele": "A", "end": 4182, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 4182, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008067.1:c.3266+124C>A" ], "proteinEffect": { "hgvs": "XP_016863556.1:n.3266+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562672" }, { "coordinates": [ { "allele": "A", "end": 4157, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 4157, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008069.1:c.3242+124C>A" ], "proteinEffect": { "hgvs": "XP_016863558.1:n.3242+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562673" }, { "coordinates": [ { "allele": "A", "end": 3373, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3373, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008071.2:c.3152+124C>A" ], "proteinEffect": { "hgvs": "XP_016863560.1:n.3152+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562674" }, { "coordinates": [ { "allele": "A", "end": 3349, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3349, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008072.2:c.3128+124C>A" ], "proteinEffect": { "hgvs": "XP_016863561.1:n.3128+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562675" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008073.2:c.3125+124C>A" ], "proteinEffect": { "hgvs": "XP_016863562.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562676" }, { "coordinates": [ { "allele": "A", "end": 3319, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3319, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008074.2:c.3098+124C>A" ], "proteinEffect": { "hgvs": "XP_016863563.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562677" }, { "coordinates": [ { "allele": "A", "end": 3283, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3283, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008075.2:c.3062+124C>A" ], "proteinEffect": { "hgvs": "XP_016863564.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562678" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008076.2:c.3125+124C>A" ], "proteinEffect": { "hgvs": "XP_016863565.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562679" }, { "coordinates": [ { "allele": "A", "end": 3259, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3259, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008077.2:c.3038+124C>A" ], "proteinEffect": { "hgvs": "XP_016863566.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562680" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008078.2:c.3125+124C>A" ], "proteinEffect": { "hgvs": "XP_016863567.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562681" }, { "coordinates": [ { "allele": "A", "end": 3295, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3295, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_017008080.2:c.3074+124C>A" ], "proteinEffect": { "hgvs": "XP_016863569.1:n.3074+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS562682" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454016.1:c.3161+124C>A" ], "proteinEffect": { "hgvs": "XP_024309784.1:n.3161+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587388" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454017.1:c.3161+124C>A" ], "proteinEffect": { "hgvs": "XP_024309785.1:n.3161+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587389" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454018.1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "XP_024309786.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587390" }, { "coordinates": [ { "allele": "A", "end": 3500, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3500, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454019.1:c.3203+124C>A" ], "proteinEffect": { "hgvs": "XP_024309787.1:n.3203+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587391" }, { "coordinates": [ { "allele": "A", "end": 3225, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3225, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454020.1:c.3125+124C>A" ], "proteinEffect": { "hgvs": "XP_024309788.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587392" }, { "coordinates": [ { "allele": "A", "end": 3222, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3222, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454021.1:c.3122+124C>A" ], "proteinEffect": { "hgvs": "XP_024309789.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587393" }, { "coordinates": [ { "allele": "A", "end": 3162, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3162, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454022.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "XP_024309790.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587394" }, { "coordinates": [ { "allele": "A", "end": 3024, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3024, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "XM_024454023.1:c.2924+124C>A" ], "proteinEffect": { "hgvs": "XP_024309791.1:n.2924+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS587395" }, { "coordinates": [ { "allele": "A", "end": 3201, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3201, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001148.6:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_001139.3:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS663800", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000357077.9:c.3125+124C>A" }, "RefSeq": { "hgvs": "NM_001148.6:c.3125+124C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000349588.4:n.3125+124C>A" }, "RefSeq": { "hgvs": "NP_001139.3:n.3125+124C>A" } } } }, { "coordinates": [ { "allele": "A", "end": 3297, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3297, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001127493.3:c.3098+124C>A" ], "proteinEffect": { "hgvs": "NP_001120965.1:n.3098+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS712217" }, { "coordinates": [ { "allele": "A", "end": 3452, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3452, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354225.2:c.3137+124C>A" ], "proteinEffect": { "hgvs": "NP_001341154.1:n.3137+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720344" }, { "coordinates": [ { "allele": "A", "end": 3440, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3440, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354228.2:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_001341157.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720345" }, { "coordinates": [ { "allele": "A", "end": 3484, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3484, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354230.2:c.3203+124C>A" ], "proteinEffect": { "hgvs": "NP_001341159.1:n.3203+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720346" }, { "coordinates": [ { "allele": "A", "end": 3448, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3448, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354231.2:c.3167+124C>A" ], "proteinEffect": { "hgvs": "NP_001341160.1:n.3167+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720347" }, { "coordinates": [ { "allele": "A", "end": 3476, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3476, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354232.2:c.3161+124C>A" ], "proteinEffect": { "hgvs": "NP_001341161.1:n.3161+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720348" }, { "coordinates": [ { "allele": "A", "end": 3437, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3437, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354235.2:c.3122+124C>A" ], "proteinEffect": { "hgvs": "NP_001341164.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720349" }, { "coordinates": [ { "allele": "A", "end": 3437, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3437, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354236.2:c.3122+124C>A" ], "proteinEffect": { "hgvs": "NP_001341165.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720350" }, { "coordinates": [ { "allele": "A", "end": 3484, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3484, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354237.2:c.3203+124C>A" ], "proteinEffect": { "hgvs": "NP_001341166.1:n.3203+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720351" }, { "coordinates": [ { "allele": "A", "end": 3294, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3294, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354239.2:c.3095+124C>A" ], "proteinEffect": { "hgvs": "NP_001341168.1:n.3095+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720352" }, { "coordinates": [ { "allele": "A", "end": 3451, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3451, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354240.2:c.3170+124C>A" ], "proteinEffect": { "hgvs": "NP_001341169.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720353" }, { "coordinates": [ { "allele": "A", "end": 3485, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3485, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354241.2:c.3170+124C>A" ], "proteinEffect": { "hgvs": "NP_001341170.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720354" }, { "coordinates": [ { "allele": "A", "end": 3448, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3448, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354242.2:c.3167+124C>A" ], "proteinEffect": { "hgvs": "NP_001341171.1:n.3167+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720355" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354243.2:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341172.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720356" }, { "coordinates": [ { "allele": "A", "end": 3258, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3258, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354244.2:c.3059+124C>A" ], "proteinEffect": { "hgvs": "NP_001341173.1:n.3059+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720357" }, { "coordinates": [ { "allele": "A", "end": 3377, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3377, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354245.2:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341174.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720358" }, { "coordinates": [ { "allele": "A", "end": 3437, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3437, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354246.2:c.3122+124C>A" ], "proteinEffect": { "hgvs": "NP_001341175.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720359" }, { "coordinates": [ { "allele": "A", "end": 3237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354249.2:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341178.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720360" }, { "coordinates": [ { "allele": "A", "end": 3294, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3294, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354252.2:c.3095+124C>A" ], "proteinEffect": { "hgvs": "NP_001341181.1:n.3095+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720361" }, { "coordinates": [ { "allele": "A", "end": 3198, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3198, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354253.2:c.2999+124C>A" ], "proteinEffect": { "hgvs": "NP_001341182.1:n.2999+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720362" }, { "coordinates": [ { "allele": "A", "end": 3273, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3273, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354254.2:c.3074+124C>A" ], "proteinEffect": { "hgvs": "NP_001341183.1:n.3074+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720363" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354255.2:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341184.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720364" }, { "coordinates": [ { "allele": "A", "end": 3258, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3258, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354256.2:c.3059+124C>A" ], "proteinEffect": { "hgvs": "NP_001341185.1:n.3059+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720365" }, { "coordinates": [ { "allele": "A", "end": 3162, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3162, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354257.2:c.2963+124C>A" ], "proteinEffect": { "hgvs": "NP_001341186.1:n.2963+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720366" }, { "coordinates": [ { "allele": "A", "end": 3440, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3440, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354258.2:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_001341187.1:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720367" }, { "coordinates": [ { "allele": "A", "end": 3138, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3138, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354260.2:c.2939+124C>A" ], "proteinEffect": { "hgvs": "NP_001341189.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720368" }, { "coordinates": [ { "allele": "A", "end": 3271, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3271, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354261.2:c.3083+124C>A" ], "proteinEffect": { "hgvs": "NP_001341190.1:n.3083+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720369" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354262.2:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341191.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720370" }, { "coordinates": [ { "allele": "A", "end": 3226, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3226, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354264.2:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341193.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720371" }, { "coordinates": [ { "allele": "A", "end": 3437, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3437, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354265.2:c.3122+124C>A" ], "proteinEffect": { "hgvs": "NP_001341194.1:n.3122+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720372" }, { "coordinates": [ { "allele": "A", "end": 3237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354266.2:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341195.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720373" }, { "coordinates": [ { "allele": "A", "end": 3226, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3226, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354267.2:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341196.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720374" }, { "coordinates": [ { "allele": "A", "end": 3341, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3341, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354268.2:c.3026+124C>A" ], "proteinEffect": { "hgvs": "NP_001341197.1:n.3026+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720375" }, { "coordinates": [ { "allele": "A", "end": 3436, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3436, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354269.3:c.2912+124C>A" ], "proteinEffect": { "hgvs": "NP_001341198.1:n.2912+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720376" }, { "coordinates": [ { "allele": "A", "end": 3198, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3198, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354270.2:c.2999+124C>A" ], "proteinEffect": { "hgvs": "NP_001341199.1:n.2999+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720377" }, { "coordinates": [ { "allele": "A", "end": 3127, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3127, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354271.2:c.2939+124C>A" ], "proteinEffect": { "hgvs": "NP_001341200.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720378" }, { "coordinates": [ { "allele": "A", "end": 3294, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3294, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354272.2:c.3095+124C>A" ], "proteinEffect": { "hgvs": "NP_001341201.1:n.3095+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720379" }, { "coordinates": [ { "allele": "A", "end": 3239, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3239, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354273.2:c.2924+124C>A" ], "proteinEffect": { "hgvs": "NP_001341202.1:n.2924+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720380" }, { "coordinates": [ { "allele": "A", "end": 3222, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3222, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354274.2:c.3023+124C>A" ], "proteinEffect": { "hgvs": "NP_001341203.1:n.3023+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720381" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354275.2:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001341204.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720382" }, { "coordinates": [ { "allele": "A", "end": 3237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354276.2:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001341205.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720383" }, { "coordinates": [ { "allele": "A", "end": 3039, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3039, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354277.2:c.2840+124C>A" ], "proteinEffect": { "hgvs": "NP_001341206.1:n.2840+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720384" }, { "coordinates": [ { "allele": "A", "end": 1062, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1062, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354278.2:c.752+124C>A" ], "proteinEffect": { "hgvs": "NP_001341207.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720385" }, { "coordinates": [ { "allele": "A", "end": 1098, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1098, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354279.2:c.788+124C>A" ], "proteinEffect": { "hgvs": "NP_001341208.1:n.788+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720386" }, { "coordinates": [ { "allele": "A", "end": 1062, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1062, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354280.2:c.752+124C>A" ], "proteinEffect": { "hgvs": "NP_001341209.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720387" }, { "coordinates": [ { "allele": "A", "end": 1062, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1062, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354281.2:c.752+124C>A" ], "proteinEffect": { "hgvs": "NP_001341210.1:n.752+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720388" }, { "coordinates": [ { "allele": "A", "end": 1098, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 1098, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001354282.2:c.788+124C>A" ], "proteinEffect": { "hgvs": "NP_001341211.1:n.788+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS720389" }, { "coordinates": [ { "allele": "A", "end": 3222, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3222, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386142.1:c.3023+124C>A" ], "proteinEffect": { "hgvs": "NP_001373071.1:n.3023+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724420" }, { "coordinates": [ { "allele": "A", "end": 3261, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3261, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386143.1:c.3062+124C>A" ], "proteinEffect": { "hgvs": "NP_001373072.1:n.3062+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724421" }, { "coordinates": [ { "allele": "A", "end": 3451, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3451, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386144.1:c.3170+124C>A" ], "proteinEffect": { "hgvs": "NP_001373073.1:n.3170+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724422" }, { "coordinates": [ { "allele": "A", "end": 3237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386146.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001373075.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724424" }, { "coordinates": [ { "allele": "A", "end": 3282, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3282, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386147.1:c.3083+124C>A" ], "proteinEffect": { "hgvs": "NP_001373076.1:n.3083+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724425" }, { "coordinates": [ { "allele": "A", "end": 3634, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3634, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386148.2:c.3110+124C>A" ], "proteinEffect": { "hgvs": "NP_001373077.1:n.3110+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724426" }, { "coordinates": [ { "allele": "A", "end": 3237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386149.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001373078.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724427" }, { "coordinates": [ { "allele": "A", "end": 3237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386150.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001373079.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724428" }, { "coordinates": [ { "allele": "A", "end": 3138, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3138, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386151.1:c.2939+124C>A" ], "proteinEffect": { "hgvs": "NP_001373080.1:n.2939+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724429" }, { "coordinates": [ { "allele": "A", "end": 3463, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3463, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386152.1:c.3182+124C>A" ], "proteinEffect": { "hgvs": "NP_001373081.1:n.3182+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724430" }, { "coordinates": [ { "allele": "A", "end": 3237, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3237, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386153.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001373082.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724431" }, { "coordinates": [ { "allele": "A", "end": 3222, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3222, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386154.1:c.3023+124C>A" ], "proteinEffect": { "hgvs": "NP_001373083.1:n.3023+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724432" }, { "coordinates": [ { "allele": "A", "end": 3151, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3151, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386156.1:c.2963+124C>A" ], "proteinEffect": { "hgvs": "NP_001373085.1:n.2963+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724434" }, { "coordinates": [ { "allele": "A", "end": 3039, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3039, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386157.1:c.2840+124C>A" ], "proteinEffect": { "hgvs": "NP_001373086.1:n.2840+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724435" }, { "coordinates": [ { "allele": "A", "end": 2929, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 2929, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386158.1:c.2741+124C>A" ], "proteinEffect": { "hgvs": "NP_001373087.1:n.2741+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724436" }, { "coordinates": [ { "allele": "A", "end": 3267, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3267, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386160.1:c.3068+124C>A" ], "proteinEffect": { "hgvs": "NP_001373089.1:n.3068+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724438" }, { "coordinates": [ { "allele": "A", "end": 3150, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3150, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386161.1:c.3059+124C>A" ], "proteinEffect": { "hgvs": "NP_001373090.1:n.3059+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724439" }, { "coordinates": [ { "allele": "A", "end": 3226, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3226, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386162.1:c.3038+124C>A" ], "proteinEffect": { "hgvs": "NP_001373091.1:n.3038+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724440" }, { "coordinates": [ { "allele": "A", "end": 3516, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3516, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386174.1:c.3266+124C>A" ], "proteinEffect": { "hgvs": "NP_001373103.1:n.3266+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724449" }, { "coordinates": [ { "allele": "A", "end": 3492, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3492, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386175.1:c.3242+124C>A" ], "proteinEffect": { "hgvs": "NP_001373104.1:n.3242+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724450" }, { "coordinates": [ { "allele": "A", "end": 3634, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3634, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386186.2:c.3110+124C>A" ], "proteinEffect": { "hgvs": "NP_001373115.1:n.3110+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724456" }, { "coordinates": [ { "allele": "A", "end": 3613, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3613, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_001386187.2:c.3089+124C>A" ], "proteinEffect": { "hgvs": "NP_001373116.1:n.3089+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS724457" }, { "coordinates": [ { "allele": "A", "end": 3201, "endIntronDirection": "+", "endIntronOffset": 124, "referenceAllele": "C", "start": 3201, "startIntronDirection": "+", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN000493", "geneNCBI_id": 287, "geneSymbol": "ANK2", "hgvs": [ "NM_020977.5:c.3125+124C>A" ], "proteinEffect": { "hgvs": "NP_066187.2:n.3125+124C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS728492" } ], "type": "nucleotide" }