Canonical Allele Identifier: CA2374774241

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406775_63406777delinsCTT , CM000682.2:g.63406775_63406777delinsCTT	GRCh38
NC_000020.10:g.62038128_62038130delinsCTT , CM000682.1:g.62038128_62038130delinsCTT	GRCh37
NC_000020.9:g.61508572_61508574delinsCTT	NCBI36
NG_009004.1:g.70864_70866delinsAAG
NG_009004.2:g.70864_70866delinsAAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2540_2542delinsAAG	ENSP00000516702.1:p.Lys847=
ENST00000359125.7:c.2486_2488delinsAAG MANE Select	ENSP00000352035.2:p.Lys829=
ENST00000637193.1:c.1883_1885delinsAAG	ENSP00000490734.1:p.Lys628=
ENST00000344462.8:c.2393_2395delinsAAG	ENSP00000339611.4:p.Lys798=
ENST00000357249.6:c.2054_2056delinsAAG	ENSP00000349789.3:p.Lys685=
ENST00000359125.6:c.2486_2488delinsAAG	ENSP00000352035.2:p.Lys829=
ENST00000360480.7:c.2402_2404delinsAAG	ENSP00000353668.3:p.Lys801=
ENST00000370224.5:c.2241+269_2241+271delinsAAG	ENSP00000359244.2:n.2241+269_2241+271deli...
ENST00000625514.2:c.2205+269_2205+271delinsAAG	ENSP00000486040.1:n.2205+269_2205+271deli...
ENST00000626839.2:c.2432_2434delinsAAG	ENSP00000486706.1:p.Lys811=
ENST00000629241.2:c.2133+269_2133+271delinsAAG	ENSP00000487142.1:n.2133+269_2133+271deli...
ENST00000629676.2:c.1680-5934_1680-5932delinsAAG	ENSP00000486194.1:n.1680-5934_1680-5932de...
NM_004518.4:c.2402_2404delinsAAG	NP_004509.2:p.Lys801=
NM_172106.1:c.2432_2434delinsAAG	NP_742104.1:p.Lys811=
NM_172107.2:c.2486_2488delinsAAG	NP_742105.1:p.Lys829=
NM_172108.3:c.2393_2395delinsAAG	NP_742106.1:p.Lys798=
XM_006723787.1:c.2528_2530delinsAAG	XP_006723850.1:p.Lys843=
XM_011528807.1:c.2594_2596delinsAAG	XP_011527109.1:p.Lys865=
XM_011528808.1:c.2591_2593delinsAAG	XP_011527110.1:p.Lys864=
XM_011528809.1:c.2564_2566delinsAAG	XP_011527111.1:p.Lys855=
XM_011528810.1:c.2540_2542delinsAAG	XP_011527112.1:p.Lys847=
XM_011528811.1:c.2510_2512delinsAAG	XP_011527113.1:p.Lys837=
XM_011528812.1:c.2483_2485delinsAAG	XP_011527114.1:p.Lys828=
XM_011528813.1:c.2468_2470delinsAAG	XP_011527115.1:p.Lys823=
XM_011528814.1:c.2075_2077delinsAAG	XP_011527116.1:p.Lys692=
NM_004518.5:c.2402_2404delinsAAG	NP_004509.2:p.Lys801=
NM_172106.2:c.2432_2434delinsAAG	NP_742104.1:p.Lys811=
NM_172107.3:c.2486_2488delinsAAG	NP_742105.1:p.Lys829=
NM_172108.4:c.2393_2395delinsAAG	NP_742106.1:p.Lys798=
XM_011528810.2:c.2540_2542delinsAAG	XP_011527112.1:p.Lys847=
XM_011528811.2:c.2510_2512delinsAAG	XP_011527113.1:p.Lys837=
XM_017027841.2:c.2537_2539delinsAAG	XP_016883330.1:p.Lys846=
XM_017027842.2:c.2474_2476delinsAAG	XP_016883331.1:p.Lys825=
XM_017027843.1:c.2471_2473delinsAAG	XP_016883332.1:p.Lys824=
XM_017027844.2:c.2429_2431delinsAAG	XP_016883333.1:p.Lys810=
XM_017027845.1:c.1502_1504delinsAAG	XP_016883334.1:p.Lys501=
NM_004518.6:c.2402_2404delinsAAG	NP_004509.2:p.Lys801=
NM_172106.3:c.2432_2434delinsAAG	NP_742104.1:p.Lys811=
NM_172107.4:c.2486_2488delinsAAG MANE Select	NP_742105.1:p.Lys829=
NM_172108.5:c.2393_2395delinsAAG	NP_742106.1:p.Lys798=
NM_001382235.1:c.2540_2542delinsAAG	NP_001369164.1:p.Lys847=