Canonical Allele Identifier: CA1019284593

Gene: KCNQ2

Linked Data

• gnomAD v3: 20-63445628-C-CTCTATCCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGAGGCCCTGTCTGAGCTGGGGGA
• gnomAD v4: 20-63445628-C-CTCTATCCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGAGGCCCTGTCTGAGCTGGGGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGAGGCCCTGTCTGAGCTGGGGGATCTATC , CM000682.2:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGAGGCCCTGTCTGAGCTGGGGGATCTATC	GRCh38
NC_000020.10:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGAGGCCCTGTCTGAGCTGGGGGATCTATC , CM000682.1:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGAGGCCCTGTCTGAGCTGGGGGATCTATC	GRCh37
NC_000020.9:g.61547431_61547432insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGAGGCCCTGTCTGAGCTGGGGGATCTATC	NCBI36
NG_009004.1:g.32012_32013insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
NG_009004.2:g.32012_32013insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000516702.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000344425.8:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000345523.5:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000359125.7:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA MANE Select	ENSP00000352035.2:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000636255.1:n.126-265_126-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000636846.1:n.96-265_96-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000637193.1:c.-132-265_-132-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000490734.1:n.-132-265_-132-264insTCCCCCAGCTCAGACAGGGCC...
ENST00000637704.1:n.23-265_23-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000344425.7:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000345523.5:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000344462.8:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000339611.4:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000357249.6:c.46-265_46-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000349789.3:n.46-265_46-264insTCCCCCAGCTCAGACAGGGCCTCCC...
ENST00000359125.6:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000352035.2:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000360480.7:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000353668.3:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000370221.3:n.514-265_514-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000370224.5:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000359244.2:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000625514.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000486040.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000626313.1:n.230-265_230-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000626839.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000486706.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000629241.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000487142.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
ENST00000629676.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	ENSP00000486194.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTC...
NM_004518.4:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_004509.2:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172106.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742104.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172107.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742105.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172108.3:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742106.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172109.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742107.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
XM_006723787.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_006723850.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528807.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527109.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528808.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527110.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528809.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527111.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528810.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527112.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528811.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527113.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528812.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527114.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528813.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527115.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528814.1:c.-132-265_-132-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527116.1:n.-132-265_-132-264insTCCCCCAGCTCAGACAGGGCCTCC...
XM_011528815.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527117.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528816.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527118.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
NM_004518.5:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_004509.2:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172106.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742104.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172107.3:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742105.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172108.4:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742106.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172109.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742107.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
XM_011528810.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527112.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_011528811.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_011527113.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_017027841.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_016883330.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_017027842.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_016883331.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_017027843.1:c.319-265_319-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_016883332.1:n.319-265_319-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
XM_017027844.2:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	XP_016883333.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...
NM_004518.6:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_004509.2:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172106.3:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742104.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172107.4:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA MANE Select	NP_742105.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172108.5:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742106.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_172109.3:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_742107.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCA...
NM_001382235.1:c.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGGATAGA	NP_001369164.1:n.388-265_388-264insTCCCCCAGCTCAGACAGGGCCTCCCC...