Canonical Allele Identifier: CA2374774313

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406931C= , CM000682.2:g.63406931C=	GRCh38
NC_000020.10:g.62038284C= , CM000682.1:g.62038284C=	GRCh37
NC_000020.9:g.61508728C=	NCBI36
NG_009004.1:g.70710G=
NG_009004.2:g.70710G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2386G=	ENSP00000516702.1:p.Glu796=
ENST00000359125.7:c.2332G= MANE Select	ENSP00000352035.2:p.Glu778=
ENST00000637193.1:c.1729G=	ENSP00000490734.1:p.Glu577=
ENST00000344462.8:c.2239G=	ENSP00000339611.4:p.Glu747=
ENST00000357249.6:c.1900G=	ENSP00000349789.3:p.Glu634=
ENST00000359125.6:c.2332G=	ENSP00000352035.2:p.Glu778=
ENST00000360480.7:c.2248G=	ENSP00000353668.3:p.Glu750=
ENST00000370224.5:c.2241+115G=	ENSP00000359244.2:n.2241+115G=
ENST00000625514.2:c.2205+115G=	ENSP00000486040.1:n.2205+115G=
ENST00000626839.2:c.2278G=	ENSP00000486706.1:p.Glu760=
ENST00000629241.2:c.2133+115G=	ENSP00000487142.1:n.2133+115G=
ENST00000629676.2:c.1680-6088G=	ENSP00000486194.1:n.1680-6088G=
NM_004518.4:c.2248G=	NP_004509.2:p.Glu750=
NM_172106.1:c.2278G=	NP_742104.1:p.Glu760=
NM_172107.2:c.2332G=	NP_742105.1:p.Glu778=
NM_172108.3:c.2239G=	NP_742106.1:p.Glu747=
XM_006723787.1:c.2374G=	XP_006723850.1:p.Glu792=
XM_011528807.1:c.2440G=	XP_011527109.1:p.Glu814=
XM_011528808.1:c.2437G=	XP_011527110.1:p.Glu813=
XM_011528809.1:c.2410G=	XP_011527111.1:p.Glu804=
XM_011528810.1:c.2386G=	XP_011527112.1:p.Glu796=
XM_011528811.1:c.2356G=	XP_011527113.1:p.Glu786=
XM_011528812.1:c.2329G=	XP_011527114.1:p.Glu777=
XM_011528813.1:c.2314G=	XP_011527115.1:p.Glu772=
XM_011528814.1:c.1921G=	XP_011527116.1:p.Glu641=
NM_004518.5:c.2248G=	NP_004509.2:p.Glu750=
NM_172106.2:c.2278G=	NP_742104.1:p.Glu760=
NM_172107.3:c.2332G=	NP_742105.1:p.Glu778=
NM_172108.4:c.2239G=	NP_742106.1:p.Glu747=
XM_011528810.2:c.2386G=	XP_011527112.1:p.Glu796=
XM_011528811.2:c.2356G=	XP_011527113.1:p.Glu786=
XM_017027841.2:c.2383G=	XP_016883330.1:p.Glu795=
XM_017027842.2:c.2320G=	XP_016883331.1:p.Glu774=
XM_017027843.1:c.2317G=	XP_016883332.1:p.Glu773=
XM_017027844.2:c.2275G=	XP_016883333.1:p.Glu759=
XM_017027845.1:c.1348G=	XP_016883334.1:p.Glu450=
NM_004518.6:c.2248G=	NP_004509.2:p.Glu750=
NM_172106.3:c.2278G=	NP_742104.1:p.Glu760=
NM_172107.4:c.2332G= MANE Select	NP_742105.1:p.Glu778=
NM_172108.5:c.2239G=	NP_742106.1:p.Glu747=
NM_001382235.1:c.2386G=	NP_001369164.1:p.Glu796=