Canonical Allele Identifier: CA1019278219

Gene: KCNQ2

Linked Data

• gnomAD v3: 20-63415324-A-AGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTT
• gnomAD v4: 20-63415324-A-AGGCTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTT

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415327_63415328insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGC , CM000682.2:g.63415327_63415328insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGC	GRCh38
NC_000020.10:g.62046680_62046681insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGC , CM000682.1:g.62046680_62046681insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGC	GRCh37
NC_000020.9:g.61517124_61517125insTGGGTGGGCAGCAAGCTCCCCCGGCTGGCTCAGGCGTGGCCAGAGGTTGGC	NCBI36
NG_009004.1:g.62316_62317insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC
NG_009004.2:g.62316_62317insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000516702.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGC...
ENST00000359125.7:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC MANE Select	ENSP00000352035.2:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGC...
ENST00000637193.1:c.699-199_699-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000490734.1:n.699-199_699-198insAACCTCTGGCCACGCCTGAGCCA...
ENST00000637584.1:n.75-235_75-234insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC
ENST00000344462.8:c.1248-235_1248-234insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000339611.4:n.1248-235_1248-234insAACCTCTGGCCACGCCTGAGC...
ENST00000357249.6:c.906-235_906-234insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000349789.3:n.906-235_906-234insAACCTCTGGCCACGCCTGAGCCA...
ENST00000359125.6:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000352035.2:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGC...
ENST00000360480.7:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000353668.3:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGC...
ENST00000370224.5:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000359244.2:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGC...
ENST00000625514.2:c.1218-235_1218-234insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000486040.1:n.1218-235_1218-234insAACCTCTGGCCACGCCTGAGC...
ENST00000626839.2:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000486706.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGC...
ENST00000627221.2:c.362-199_362-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC
ENST00000629241.2:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000487142.1:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGC...
ENST00000629676.2:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	ENSP00000486194.1:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGC...
NM_004518.4:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_004509.2:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172106.1:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_742104.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172107.2:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_742105.1:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172108.3:c.1248-235_1248-234insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_742106.1:n.1248-235_1248-234insAACCTCTGGCCACGCCTGAGCCAGCCG...
XM_006723787.1:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_006723850.1:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528807.1:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527109.1:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528808.1:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527110.1:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528809.1:c.1272-199_1272-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527111.1:n.1272-199_1272-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528810.1:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527112.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528811.1:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527113.1:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528812.1:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527114.1:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528813.1:c.1176-199_1176-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527115.1:n.1176-199_1176-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528814.1:c.783-199_783-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527116.1:n.783-199_783-198insAACCTCTGGCCACGCCTGAGCCAGCC...
XM_011528815.1:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527117.1:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAG...
NM_004518.5:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_004509.2:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172106.2:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_742104.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172107.3:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_742105.1:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172108.4:c.1248-235_1248-234insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_742106.1:n.1248-235_1248-234insAACCTCTGGCCACGCCTGAGCCAGCCG...
XM_011528810.2:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527112.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_011528811.2:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_011527113.1:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_017027841.2:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_016883330.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_017027842.2:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_016883331.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_017027843.1:c.1179-199_1179-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_016883332.1:n.1179-199_1179-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_017027844.2:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_016883333.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAG...
XM_017027845.1:c.210-199_210-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	XP_016883334.1:n.210-199_210-198insAACCTCTGGCCACGCCTGAGCCAGCC...
NM_004518.6:c.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_004509.2:n.1218-199_1218-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172106.3:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_742104.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172107.4:c.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC MANE Select	NP_742105.1:n.1302-199_1302-198insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_172108.5:c.1248-235_1248-234insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_742106.1:n.1248-235_1248-234insAACCTCTGGCCACGCCTGAGCCAGCCG...
NM_001382235.1:c.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAGCCGGGGGAGCTTGCTGCCCACCCAGCC	NP_001369164.1:n.1248-199_1248-198insAACCTCTGGCCACGCCTGAGCCAG...