Canonical Allele Identifier: CA2374774259

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406818A= , CM000682.2:g.63406818A=	GRCh38
NC_000020.10:g.62038171A= , CM000682.1:g.62038171A=	GRCh37
NC_000020.9:g.61508615A=	NCBI36
NG_009004.1:g.70823T=
NG_009004.2:g.70823T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2499T=	ENSP00000516702.1:p.Asp833=
ENST00000359125.7:c.2445T= MANE Select	ENSP00000352035.2:p.Asp815=
ENST00000637193.1:c.1842T=	ENSP00000490734.1:p.Asp614=
ENST00000344462.8:c.2352T=	ENSP00000339611.4:p.Asp784=
ENST00000357249.6:c.2013T=	ENSP00000349789.3:p.Asp671=
ENST00000359125.6:c.2445T=	ENSP00000352035.2:p.Asp815=
ENST00000360480.7:c.2361T=	ENSP00000353668.3:p.Asp787=
ENST00000370224.5:c.2241+228T=	ENSP00000359244.2:n.2241+228T=
ENST00000625514.2:c.2205+228T=	ENSP00000486040.1:n.2205+228T=
ENST00000626839.2:c.2391T=	ENSP00000486706.1:p.Asp797=
ENST00000629241.2:c.2133+228T=	ENSP00000487142.1:n.2133+228T=
ENST00000629676.2:c.1680-5975T=	ENSP00000486194.1:n.1680-5975T=
NM_004518.4:c.2361T=	NP_004509.2:p.Asp787=
NM_172106.1:c.2391T=	NP_742104.1:p.Asp797=
NM_172107.2:c.2445T=	NP_742105.1:p.Asp815=
NM_172108.3:c.2352T=	NP_742106.1:p.Asp784=
XM_006723787.1:c.2487T=	XP_006723850.1:p.Asp829=
XM_011528807.1:c.2553T=	XP_011527109.1:p.Asp851=
XM_011528808.1:c.2550T=	XP_011527110.1:p.Asp850=
XM_011528809.1:c.2523T=	XP_011527111.1:p.Asp841=
XM_011528810.1:c.2499T=	XP_011527112.1:p.Asp833=
XM_011528811.1:c.2469T=	XP_011527113.1:p.Asp823=
XM_011528812.1:c.2442T=	XP_011527114.1:p.Asp814=
XM_011528813.1:c.2427T=	XP_011527115.1:p.Asp809=
XM_011528814.1:c.2034T=	XP_011527116.1:p.Asp678=
NM_004518.5:c.2361T=	NP_004509.2:p.Asp787=
NM_172106.2:c.2391T=	NP_742104.1:p.Asp797=
NM_172107.3:c.2445T=	NP_742105.1:p.Asp815=
NM_172108.4:c.2352T=	NP_742106.1:p.Asp784=
XM_011528810.2:c.2499T=	XP_011527112.1:p.Asp833=
XM_011528811.2:c.2469T=	XP_011527113.1:p.Asp823=
XM_017027841.2:c.2496T=	XP_016883330.1:p.Asp832=
XM_017027842.2:c.2433T=	XP_016883331.1:p.Asp811=
XM_017027843.1:c.2430T=	XP_016883332.1:p.Asp810=
XM_017027844.2:c.2388T=	XP_016883333.1:p.Asp796=
XM_017027845.1:c.1461T=	XP_016883334.1:p.Asp487=
NM_004518.6:c.2361T=	NP_004509.2:p.Asp787=
NM_172106.3:c.2391T=	NP_742104.1:p.Asp797=
NM_172107.4:c.2445T= MANE Select	NP_742105.1:p.Asp815=
NM_172108.5:c.2352T=	NP_742106.1:p.Asp784=
NM_001382235.1:c.2499T=	NP_001369164.1:p.Asp833=