Canonical Allele Identifier: CA2374774269

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406844T= , CM000682.2:g.63406844T=	GRCh38
NC_000020.10:g.62038197T= , CM000682.1:g.62038197T=	GRCh37
NC_000020.9:g.61508641T=	NCBI36
NG_009004.1:g.70797A=
NG_009004.2:g.70797A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2473A=	ENSP00000516702.1:p.Ile825=
ENST00000359125.7:c.2419A= MANE Select	ENSP00000352035.2:p.Ile807=
ENST00000637193.1:c.1816A=	ENSP00000490734.1:p.Ile606=
ENST00000344462.8:c.2326A=	ENSP00000339611.4:p.Ile776=
ENST00000357249.6:c.1987A=	ENSP00000349789.3:p.Ile663=
ENST00000359125.6:c.2419A=	ENSP00000352035.2:p.Ile807=
ENST00000360480.7:c.2335A=	ENSP00000353668.3:p.Ile779=
ENST00000370224.5:c.2241+202A=	ENSP00000359244.2:n.2241+202A=
ENST00000625514.2:c.2205+202A=	ENSP00000486040.1:n.2205+202A=
ENST00000626839.2:c.2365A=	ENSP00000486706.1:p.Ile789=
ENST00000629241.2:c.2133+202A=	ENSP00000487142.1:n.2133+202A=
ENST00000629676.2:c.1680-6001A=	ENSP00000486194.1:n.1680-6001A=
NM_004518.4:c.2335A=	NP_004509.2:p.Ile779=
NM_172106.1:c.2365A=	NP_742104.1:p.Ile789=
NM_172107.2:c.2419A=	NP_742105.1:p.Ile807=
NM_172108.3:c.2326A=	NP_742106.1:p.Ile776=
XM_006723787.1:c.2461A=	XP_006723850.1:p.Ile821=
XM_011528807.1:c.2527A=	XP_011527109.1:p.Ile843=
XM_011528808.1:c.2524A=	XP_011527110.1:p.Ile842=
XM_011528809.1:c.2497A=	XP_011527111.1:p.Ile833=
XM_011528810.1:c.2473A=	XP_011527112.1:p.Ile825=
XM_011528811.1:c.2443A=	XP_011527113.1:p.Ile815=
XM_011528812.1:c.2416A=	XP_011527114.1:p.Ile806=
XM_011528813.1:c.2401A=	XP_011527115.1:p.Ile801=
XM_011528814.1:c.2008A=	XP_011527116.1:p.Ile670=
NM_004518.5:c.2335A=	NP_004509.2:p.Ile779=
NM_172106.2:c.2365A=	NP_742104.1:p.Ile789=
NM_172107.3:c.2419A=	NP_742105.1:p.Ile807=
NM_172108.4:c.2326A=	NP_742106.1:p.Ile776=
XM_011528810.2:c.2473A=	XP_011527112.1:p.Ile825=
XM_011528811.2:c.2443A=	XP_011527113.1:p.Ile815=
XM_017027841.2:c.2470A=	XP_016883330.1:p.Ile824=
XM_017027842.2:c.2407A=	XP_016883331.1:p.Ile803=
XM_017027843.1:c.2404A=	XP_016883332.1:p.Ile802=
XM_017027844.2:c.2362A=	XP_016883333.1:p.Ile788=
XM_017027845.1:c.1435A=	XP_016883334.1:p.Ile479=
NM_004518.6:c.2335A=	NP_004509.2:p.Ile779=
NM_172106.3:c.2365A=	NP_742104.1:p.Ile789=
NM_172107.4:c.2419A= MANE Select	NP_742105.1:p.Ile807=
NM_172108.5:c.2326A=	NP_742106.1:p.Ile776=
NM_001382235.1:c.2473A=	NP_001369164.1:p.Ile825=