{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA399313199", "communityStandardTitle": [ "NM_004448.4(ERBB2):c.3508C>A (p.Pro1170Thr)" ], "externalRecords": { "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.37884037C>A?assembly=hg19", "id": "chr17:g.37884037C>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr17:g.39727784C>A?assembly=hg38", "id": "chr17:g.39727784C>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1058808", "rs": 1058808 } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/17-39727784-C-A?dataset=gnomad_r4", "id": "17-39727784-C-A", "variant": "17:39727784 C / A" } ] }, "genomicAlleles": [ { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 39727784, "referenceAllele": "C", "start": 39727783 } ], "hgvs": [ "NC_000017.11:g.39727784C>A", "CM000679.2:g.39727784C>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000065" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 37884037, "referenceAllele": "C", "start": 37884036 } ], "hgvs": [ "NC_000017.10:g.37884037C>A", "CM000679.1:g.37884037C>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000041" }, { "chromosome": "17", "coordinates": [ { "allele": "A", "end": 35137563, "referenceAllele": "C", "start": 35137562 } ], "hgvs": [ "NC_000017.9:g.35137563C>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000017" }, { "coordinates": [ { "allele": "A", "end": 44645, "referenceAllele": "C", "start": 44644 } ], "hgvs": [ "NG_007503.1:g.44645C>A", "LRG_724:g.44645C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS000622" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 3683, "referenceAllele": "C", "start": 3682 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "ENST00000269571.10:c.3508C>A" ], "proteinEffect": { "hgvs": "ENSP00000269571.4:p.Pro1170Thr", "hgvsWellDefined": "ENSP00000269571.4:p.Pro1170Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS743120", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269571.10:c.3508C>A" }, "RefSeq": { "hgvs": "NM_004448.4:c.3508C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269571.4:p.Pro1170Thr" }, "RefSeq": { "hgvs": "NP_004439.2:p.Pro1170Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 3667, "referenceAllele": "C", "start": 3666 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "ENST00000269571.9:c.3508C>A" ], "proteinEffect": { "hgvs": "ENSP00000269571.4:p.Pro1170Thr", "hgvsWellDefined": "ENSP00000269571.4:p.Pro1170Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS252189" }, { "coordinates": [ { "allele": "A", "end": 3686, "referenceAllele": "C", "start": 3685 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "ENST00000406381.6:c.3418C>A" ], "proteinEffect": { "hgvs": "ENSP00000385185.2:p.Pro1140Thr", "hgvsWellDefined": "ENSP00000385185.2:p.Pro1140Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS280615" }, { "coordinates": [ { "allele": "A", "end": 2943, "referenceAllele": "C", "start": 2942 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "ENST00000445658.6:c.2680C>A" ], "proteinEffect": { "hgvs": "ENSP00000404047.2:p.Pro894Thr", "hgvsWellDefined": "ENSP00000404047.2:p.Pro894Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS298388" }, { "coordinates": [ { "allele": "A", "end": 3463, "referenceAllele": "C", "start": 3462 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "ENST00000541774.5:c.3463C>A" ], "proteinEffect": { "hgvs": "ENSP00000446466.1:p.Pro1155Thr", "hgvsWellDefined": "ENSP00000446466.1:p.Pro1155Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS363106" }, { "coordinates": [ { "allele": "A", "end": 3730, "referenceAllele": "C", "start": 3729 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "ENST00000578373.5:c.*3298C>A" ], "proteinEffect": { "hgvs": "ENSP00000463427.1:n.*3298C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS385328" }, { "coordinates": [ { "allele": "A", "end": 3470, "referenceAllele": "C", "start": 3469 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "ENST00000584450.5:c.*87C>A" ], "proteinEffect": { "hgvs": "ENSP00000463714.1:n.*87C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS388226" }, { "coordinates": [ { "allele": "A", "end": 4215, "referenceAllele": "C", "start": 4214 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "ENST00000584601.5:c.3418C>A" ], "proteinEffect": { "hgvs": "ENSP00000462438.1:p.Pro1140Thr", "hgvsWellDefined": "ENSP00000462438.1:p.Pro1140Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS388297" }, { "coordinates": [ { "allele": "A", "end": 3994, "referenceAllele": "C", "start": 3993 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001005862.2:c.3418C>A", "LRG_724t1:c.3418C>A" ], "proteinEffect": { "hgvs": "NP_001005862.1:p.Pro1140Thr", "hgvsWellDefined": "NP_001005862.1:p.Pro1140Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS007794" }, { "coordinates": [ { "allele": "A", "end": 4045, "referenceAllele": "C", "start": 4044 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001289936.1:c.3463C>A", "LRG_724t4:c.3463C>A" ], "proteinEffect": { "hgvs": "NP_001276865.1:p.Pro1155Thr", "hgvsWellDefined": "NP_001276865.1:p.Pro1155Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS023939" }, { "coordinates": [ { "allele": "A", "end": 3516, "referenceAllele": "C", "start": 3515 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001289937.1:c.*87C>A" ], "proteinEffect": { "hgvs": "NP_001276866.1:n.*87C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS023940" }, { "@id": "http://reg.genome.network/allele/PA3083950394", "coordinates": [ { "allele": "A", "end": 3769, "referenceAllele": "C", "start": 3768 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_004448.3:c.3508C>A", "LRG_724t2:c.3508C>A" ], "proteinEffect": { "hgvs": "NP_004439.2:p.Pro1170Thr", "hgvsWellDefined": "NP_004439.2:p.Pro1170Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS029610" }, { "coordinates": [ { "allele": "A", "end": 3832, "referenceAllele": "C", "start": 3831 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NR_110535.1:n.3832C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS054705" }, { "coordinates": [ { "allele": "A", "end": 3893, "referenceAllele": "C", "start": 3892 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "XM_024450641.1:c.3646C>A" ], "proteinEffect": { "hgvs": "XP_024306409.1:p.Pro1216Thr", "hgvsWellDefined": "XP_024306409.1:p.Pro1216Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584175" }, { "coordinates": [ { "allele": "A", "end": 4122, "referenceAllele": "C", "start": 4121 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "XM_024450642.1:c.3601C>A" ], "proteinEffect": { "hgvs": "XP_024306410.1:p.Pro1201Thr", "hgvsWellDefined": "XP_024306410.1:p.Pro1201Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584176" }, { "coordinates": [ { "allele": "A", "end": 4119, "referenceAllele": "C", "start": 4118 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "XM_024450643.1:c.3556C>A" ], "proteinEffect": { "hgvs": "XP_024306411.1:p.Pro1186Thr", "hgvsWellDefined": "XP_024306411.1:p.Pro1186Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS584177" }, { "coordinates": [ { "allele": "A", "end": 3984, "referenceAllele": "C", "start": 3983 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001005862.3:c.3418C>A" ], "proteinEffect": { "hgvs": "NP_001005862.1:p.Pro1140Thr", "hgvsWellDefined": "NP_001005862.1:p.Pro1140Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS711182" }, { "coordinates": [ { "allele": "A", "end": 4035, "referenceAllele": "C", "start": 4034 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001289936.2:c.3463C>A" ], "proteinEffect": { "hgvs": "NP_001276865.1:p.Pro1155Thr", "hgvsWellDefined": "NP_001276865.1:p.Pro1155Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS716607" }, { "coordinates": [ { "allele": "A", "end": 3430, "referenceAllele": "C", "start": 3429 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001289937.2:c.*87C>A" ], "proteinEffect": { "hgvs": "NP_001276866.1:n.*87C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS716608" }, { "coordinates": [ { "allele": "A", "end": 4291, "referenceAllele": "C", "start": 4290 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382782.1:c.3418C>A" ], "proteinEffect": { "hgvs": "NP_001369711.1:p.Pro1140Thr", "hgvsWellDefined": "NP_001369711.1:p.Pro1140Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722620" }, { "coordinates": [ { "allele": "A", "end": 3808, "referenceAllele": "C", "start": 3807 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382783.1:c.3418C>A" ], "proteinEffect": { "hgvs": "NP_001369712.1:p.Pro1140Thr", "hgvsWellDefined": "NP_001369712.1:p.Pro1140Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722621" }, { "coordinates": [ { "allele": "A", "end": 3800, "referenceAllele": "C", "start": 3799 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382784.1:c.3625C>A" ], "proteinEffect": { "hgvs": "NP_001369713.1:p.Pro1209Thr", "hgvsWellDefined": "NP_001369713.1:p.Pro1209Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722622" }, { "coordinates": [ { "allele": "A", "end": 3785, "referenceAllele": "C", "start": 3784 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382785.1:c.3610C>A" ], "proteinEffect": { "hgvs": "NP_001369714.1:p.Pro1204Thr", "hgvsWellDefined": "NP_001369714.1:p.Pro1204Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722623" }, { "coordinates": [ { "allele": "A", "end": 3764, "referenceAllele": "C", "start": 3763 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382786.1:c.3589C>A" ], "proteinEffect": { "hgvs": "NP_001369715.1:p.Pro1197Thr", "hgvsWellDefined": "NP_001369715.1:p.Pro1197Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722624" }, { "coordinates": [ { "allele": "A", "end": 3758, "referenceAllele": "C", "start": 3757 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382787.1:c.3583C>A" ], "proteinEffect": { "hgvs": "NP_001369716.1:p.Pro1195Thr", "hgvsWellDefined": "NP_001369716.1:p.Pro1195Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722625" }, { "coordinates": [ { "allele": "A", "end": 3713, "referenceAllele": "C", "start": 3712 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382788.1:c.3538C>A" ], "proteinEffect": { "hgvs": "NP_001369717.1:p.Pro1180Thr", "hgvsWellDefined": "NP_001369717.1:p.Pro1180Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722626" }, { "coordinates": [ { "allele": "A", "end": 3704, "referenceAllele": "C", "start": 3703 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382789.1:c.3529C>A" ], "proteinEffect": { "hgvs": "NP_001369718.1:p.Pro1177Thr", "hgvsWellDefined": "NP_001369718.1:p.Pro1177Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722627" }, { "coordinates": [ { "allele": "A", "end": 3680, "referenceAllele": "C", "start": 3679 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382790.1:c.3505C>A" ], "proteinEffect": { "hgvs": "NP_001369719.1:p.Pro1169Thr", "hgvsWellDefined": "NP_001369719.1:p.Pro1169Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722628" }, { "coordinates": [ { "allele": "A", "end": 3674, "referenceAllele": "C", "start": 3673 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382791.1:c.3499C>A" ], "proteinEffect": { "hgvs": "NP_001369720.1:p.Pro1167Thr", "hgvsWellDefined": "NP_001369720.1:p.Pro1167Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722629" }, { "coordinates": [ { "allele": "A", "end": 3647, "referenceAllele": "C", "start": 3646 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382792.1:c.3472C>A" ], "proteinEffect": { "hgvs": "NP_001369721.1:p.Pro1158Thr", "hgvsWellDefined": "NP_001369721.1:p.Pro1158Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722630" }, { "coordinates": [ { "allele": "A", "end": 3641, "referenceAllele": "C", "start": 3640 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382793.1:c.3466C>A" ], "proteinEffect": { "hgvs": "NP_001369722.1:p.Pro1156Thr", "hgvsWellDefined": "NP_001369722.1:p.Pro1156Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722631" }, { "coordinates": [ { "allele": "A", "end": 3641, "referenceAllele": "C", "start": 3640 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382794.1:c.3466C>A" ], "proteinEffect": { "hgvs": "NP_001369723.1:p.Pro1156Thr", "hgvsWellDefined": "NP_001369723.1:p.Pro1156Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722632" }, { "coordinates": [ { "allele": "A", "end": 3635, "referenceAllele": "C", "start": 3634 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382795.1:c.3460C>A" ], "proteinEffect": { "hgvs": "NP_001369724.1:p.Pro1154Thr", "hgvsWellDefined": "NP_001369724.1:p.Pro1154Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722633" }, { "coordinates": [ { "allele": "A", "end": 3596, "referenceAllele": "C", "start": 3595 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382796.1:c.3421C>A" ], "proteinEffect": { "hgvs": "NP_001369725.1:p.Pro1141Thr", "hgvsWellDefined": "NP_001369725.1:p.Pro1141Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722634" }, { "coordinates": [ { "allele": "A", "end": 3584, "referenceAllele": "C", "start": 3583 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382797.1:c.3409C>A" ], "proteinEffect": { "hgvs": "NP_001369726.1:p.Pro1137Thr", "hgvsWellDefined": "NP_001369726.1:p.Pro1137Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722635" }, { "coordinates": [ { "allele": "A", "end": 3527, "referenceAllele": "C", "start": 3526 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382798.1:c.3352C>A" ], "proteinEffect": { "hgvs": "NP_001369727.1:p.Pro1118Thr", "hgvsWellDefined": "NP_001369727.1:p.Pro1118Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722636" }, { "coordinates": [ { "allele": "A", "end": 3503, "referenceAllele": "C", "start": 3502 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382799.1:c.3328C>A" ], "proteinEffect": { "hgvs": "NP_001369728.1:p.Pro1110Thr", "hgvsWellDefined": "NP_001369728.1:p.Pro1110Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722637" }, { "coordinates": [ { "allele": "A", "end": 3497, "referenceAllele": "C", "start": 3496 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382800.1:c.3322C>A" ], "proteinEffect": { "hgvs": "NP_001369729.1:p.Pro1108Thr", "hgvsWellDefined": "NP_001369729.1:p.Pro1108Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722638" }, { "coordinates": [ { "allele": "A", "end": 3479, "referenceAllele": "C", "start": 3478 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382801.1:c.3304C>A" ], "proteinEffect": { "hgvs": "NP_001369730.1:p.Pro1102Thr", "hgvsWellDefined": "NP_001369730.1:p.Pro1102Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722639" }, { "coordinates": [ { "allele": "A", "end": 3425, "referenceAllele": "C", "start": 3424 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382802.1:c.3250C>A" ], "proteinEffect": { "hgvs": "NP_001369731.1:p.Pro1084Thr", "hgvsWellDefined": "NP_001369731.1:p.Pro1084Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722640" }, { "coordinates": [ { "allele": "A", "end": 3388, "referenceAllele": "C", "start": 3387 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382803.1:c.*87C>A" ], "proteinEffect": { "hgvs": "NP_001369732.1:n.*87C>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS722641" }, { "coordinates": [ { "allele": "A", "end": 2855, "referenceAllele": "C", "start": 2854 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382804.1:c.2680C>A" ], "proteinEffect": { "hgvs": "NP_001369733.1:p.Pro894Thr", "hgvsWellDefined": "NP_001369733.1:p.Pro894Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722642" }, { "coordinates": [ { "allele": "A", "end": 2732, "referenceAllele": "C", "start": 2731 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382805.1:c.2557C>A" ], "proteinEffect": { "hgvs": "NP_001369734.1:p.Pro853Thr", "hgvsWellDefined": "NP_001369734.1:p.Pro853Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722643" }, { "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "C", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_001382806.1:c.2470C>A" ], "proteinEffect": { "hgvs": "NP_001369735.1:p.Pro824Thr", "hgvsWellDefined": "NP_001369735.1:p.Pro824Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS722644" }, { "@id": "http://reg.genome.network/allele/PA3083950394", "coordinates": [ { "allele": "A", "end": 3683, "referenceAllele": "C", "start": 3682 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NM_004448.4:c.3508C>A" ], "proteinEffect": { "hgvs": "NP_004439.2:p.Pro1170Thr", "hgvsWellDefined": "NP_004439.2:p.Pro1170Thr" }, "referenceSequence": "http://reg.genome.network/refseq/RS727505", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000269571.10:c.3508C>A" }, "RefSeq": { "hgvs": "NM_004448.4:c.3508C>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000269571.4:p.Pro1170Thr" }, "RefSeq": { "hgvs": "NP_004439.2:p.Pro1170Thr" } } } }, { "coordinates": [ { "allele": "A", "end": 3746, "referenceAllele": "C", "start": 3745 } ], "gene": "http://reg.genome.network/gene/GN003430", "geneNCBI_id": 2064, "geneSymbol": "ERBB2", "hgvs": [ "NR_110535.2:n.3746C>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS730715" } ], "type": "nucleotide" }