Canonical Allele Identifier: CA2573130266
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2500788
ClinVar RCV Id: RCV003225700

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406936_63406937dup , CM000682.2:g.63406936_63406937dup GRCh38
NC_000020.10:g.62038289_62038290dup , CM000682.1:g.62038289_62038290dup GRCh37
NC_000020.9:g.61508733_61508734dup NCBI36
NG_009004.1:g.70708_70709dup
NG_009004.2:g.70708_70709dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2384_2385dup ENSP00000516702.1:p.Glu796ProfsTer?
ENST00000359125.7:c.2330_2331dup MANE Select ENSP00000352035.2:p.Glu778ProfsTer?
ENST00000637193.1:c.1727_1728dup ENSP00000490734.1:p.Glu577ProfsTer?
ENST00000344462.8:c.2237_2238dup ENSP00000339611.4:p.Glu747ProfsTer?
ENST00000357249.6:c.1898_1899dup ENSP00000349789.3:p.Glu634ProfsTer?
ENST00000359125.6:c.2330_2331dup ENSP00000352035.2:p.Glu778ProfsTer?
ENST00000360480.7:c.2246_2247dup ENSP00000353668.3:p.Glu750ProfsTer?
ENST00000370224.5:c.2241+113_2241+114dup ENSP00000359244.2:n.2241+113_2241+114dup
ENST00000625514.2:c.2205+113_2205+114dup ENSP00000486040.1:n.2205+113_2205+114dup
ENST00000626839.2:c.2276_2277dup ENSP00000486706.1:p.Glu760ProfsTer?
ENST00000629241.2:c.2133+113_2133+114dup ENSP00000487142.1:n.2133+113_2133+114dup
ENST00000629676.2:c.1680-6090_1680-6089dup ENSP00000486194.1:n.1680-6090_1680-6089dup
NM_004518.4:c.2246_2247dup NP_004509.2:p.Glu750ProfsTer?
NM_172106.1:c.2276_2277dup NP_742104.1:p.Glu760ProfsTer?
NM_172107.2:c.2330_2331dup NP_742105.1:p.Glu778ProfsTer?
NM_172108.3:c.2237_2238dup NP_742106.1:p.Glu747ProfsTer?
XM_006723787.1:c.2372_2373dup XP_006723850.1:p.Glu792ProfsTer?
XM_011528807.1:c.2438_2439dup XP_011527109.1:p.Glu814ProfsTer?
XM_011528808.1:c.2435_2436dup XP_011527110.1:p.Glu813ProfsTer?
XM_011528809.1:c.2408_2409dup XP_011527111.1:p.Glu804ProfsTer?
XM_011528810.1:c.2384_2385dup XP_011527112.1:p.Glu796ProfsTer?
XM_011528811.1:c.2354_2355dup XP_011527113.1:p.Glu786ProfsTer?
XM_011528812.1:c.2327_2328dup XP_011527114.1:p.Glu777ProfsTer?
XM_011528813.1:c.2312_2313dup XP_011527115.1:p.Glu772ProfsTer?
XM_011528814.1:c.1919_1920dup XP_011527116.1:p.Glu641ProfsTer?
NM_004518.5:c.2246_2247dup NP_004509.2:p.Glu750ProfsTer?
NM_172106.2:c.2276_2277dup NP_742104.1:p.Glu760ProfsTer?
NM_172107.3:c.2330_2331dup NP_742105.1:p.Glu778ProfsTer?
NM_172108.4:c.2237_2238dup NP_742106.1:p.Glu747ProfsTer?
XM_011528810.2:c.2384_2385dup XP_011527112.1:p.Glu796ProfsTer?
XM_011528811.2:c.2354_2355dup XP_011527113.1:p.Glu786ProfsTer?
XM_017027841.2:c.2381_2382dup XP_016883330.1:p.Glu795ProfsTer?
XM_017027842.2:c.2318_2319dup XP_016883331.1:p.Glu774ProfsTer?
XM_017027843.1:c.2315_2316dup XP_016883332.1:p.Glu773ProfsTer?
XM_017027844.2:c.2273_2274dup XP_016883333.1:p.Glu759ProfsTer?
XM_017027845.1:c.1346_1347dup XP_016883334.1:p.Glu450ProfsTer?
NM_004518.6:c.2246_2247dup NP_004509.2:p.Glu750ProfsTer?
NM_172106.3:c.2276_2277dup NP_742104.1:p.Glu760ProfsTer?
NM_172107.4:c.2330_2331dup MANE Select NP_742105.1:p.Glu778ProfsTer?
NM_172108.5:c.2237_2238dup NP_742106.1:p.Glu747ProfsTer?
NM_001382235.1:c.2384_2385dup NP_001369164.1:p.Glu796ProfsTer?