Canonical Allele Identifier: CA2374787166

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63431432_63431433delinsAG , CM000682.2:g.63431432_63431433delinsAG	GRCh38
NC_000020.10:g.62062785_62062786delinsAG , CM000682.1:g.62062785_62062786delinsAG	GRCh37
NC_000020.9:g.61533229_61533230delinsAG	NCBI36
NG_009004.1:g.46208_46209delinsCT
NG_009004.2:g.46208_46209delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1119-64_1119-63delinsCT	ENSP00000516702.1:n.1119-64_1119-63delinsCT
ENST00000359125.7:c.1119-64_1119-63delinsCT MANE Select	ENSP00000352035.2:n.1119-64_1119-63delinsCT
ENST00000636638.1:n.31+2013_31+2014delinsCT
ENST00000637193.1:c.599+2376_599+2377delinsCT	ENSP00000490734.1:n.599+2376_599+2377delinsCT
ENST00000344462.8:c.1119-64_1119-63delinsCT	ENSP00000339611.4:n.1119-64_1119-63delinsCT
ENST00000357249.6:c.777-64_777-63delinsCT	ENSP00000349789.3:n.777-64_777-63delinsCT
ENST00000359125.6:c.1119-64_1119-63delinsCT	ENSP00000352035.2:n.1119-64_1119-63delinsCT
ENST00000360480.7:c.1118+2376_1118+2377delinsCT	ENSP00000353668.3:n.1118+2376_1118+2377delinsCT
ENST00000370221.3:n.1245-64_1245-63delinsCT
ENST00000370224.5:c.1118+2376_1118+2377delinsCT	ENSP00000359244.2:n.1118+2376_1118+2377delinsCT
ENST00000625514.2:c.1118+2376_1118+2377delinsCT	ENSP00000486040.1:n.1118+2376_1118+2377delinsCT
ENST00000626839.2:c.1119-64_1119-63delinsCT	ENSP00000486706.1:n.1119-64_1119-63delinsCT
ENST00000627221.2:c.262+2376_262+2377delinsCT
ENST00000629241.2:c.1118+2376_1118+2377delinsCT	ENSP00000487142.1:n.1118+2376_1118+2377delinsCT
ENST00000629676.2:c.1118+2376_1118+2377delinsCT	ENSP00000486194.1:n.1118+2376_1118+2377delinsCT
NM_004518.4:c.1118+2376_1118+2377delinsCT	NP_004509.2:n.1118+2376_1118+2377delinsCT
NM_172106.1:c.1119-64_1119-63delinsCT	NP_742104.1:n.1119-64_1119-63delinsCT
NM_172107.2:c.1119-64_1119-63delinsCT	NP_742105.1:n.1119-64_1119-63delinsCT
NM_172108.3:c.1119-64_1119-63delinsCT	NP_742106.1:n.1119-64_1119-63delinsCT
XM_006723787.1:c.1119-64_1119-63delinsCT	XP_006723850.1:n.1119-64_1119-63delinsCT
XM_011528807.1:c.1119-64_1119-63delinsCT	XP_011527109.1:n.1119-64_1119-63delinsCT
XM_011528808.1:c.1119-64_1119-63delinsCT	XP_011527110.1:n.1119-64_1119-63delinsCT
XM_011528809.1:c.1118+2376_1118+2377delinsCT	XP_011527111.1:n.1118+2376_1118+2377delinsCT
XM_011528810.1:c.1119-64_1119-63delinsCT	XP_011527112.1:n.1119-64_1119-63delinsCT
XM_011528811.1:c.1118+2376_1118+2377delinsCT	XP_011527113.1:n.1118+2376_1118+2377delinsCT
XM_011528812.1:c.1119-64_1119-63delinsCT	XP_011527114.1:n.1119-64_1119-63delinsCT
XM_011528813.1:c.993-64_993-63delinsCT	XP_011527115.1:n.993-64_993-63delinsCT
XM_011528814.1:c.600-64_600-63delinsCT	XP_011527116.1:n.600-64_600-63delinsCT
XM_011528815.1:c.1119-64_1119-63delinsCT	XP_011527117.1:n.1119-64_1119-63delinsCT
NM_004518.5:c.1118+2376_1118+2377delinsCT	NP_004509.2:n.1118+2376_1118+2377delinsCT
NM_172106.2:c.1119-64_1119-63delinsCT	NP_742104.1:n.1119-64_1119-63delinsCT
NM_172107.3:c.1119-64_1119-63delinsCT	NP_742105.1:n.1119-64_1119-63delinsCT
NM_172108.4:c.1119-64_1119-63delinsCT	NP_742106.1:n.1119-64_1119-63delinsCT
XM_011528810.2:c.1119-64_1119-63delinsCT	XP_011527112.1:n.1119-64_1119-63delinsCT
XM_011528811.2:c.1118+2376_1118+2377delinsCT	XP_011527113.1:n.1118+2376_1118+2377delinsCT
XM_017027841.2:c.1119-64_1119-63delinsCT	XP_016883330.1:n.1119-64_1119-63delinsCT
XM_017027842.2:c.1119-64_1119-63delinsCT	XP_016883331.1:n.1119-64_1119-63delinsCT
XM_017027843.1:c.1050-64_1050-63delinsCT	XP_016883332.1:n.1050-64_1050-63delinsCT
XM_017027844.2:c.1119-64_1119-63delinsCT	XP_016883333.1:n.1119-64_1119-63delinsCT
NM_004518.6:c.1118+2376_1118+2377delinsCT	NP_004509.2:n.1118+2376_1118+2377delinsCT
NM_172106.3:c.1119-64_1119-63delinsCT	NP_742104.1:n.1119-64_1119-63delinsCT
NM_172107.4:c.1119-64_1119-63delinsCT MANE Select	NP_742105.1:n.1119-64_1119-63delinsCT
NM_172108.5:c.1119-64_1119-63delinsCT	NP_742106.1:n.1119-64_1119-63delinsCT
NM_001382235.1:c.1119-64_1119-63delinsCT	NP_001369164.1:n.1119-64_1119-63delinsCT