Canonical Allele Identifier: CA2374775243

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63408536T= , CM000682.2:g.63408536T=	GRCh38
NC_000020.10:g.62039889T= , CM000682.1:g.62039889T=	GRCh37
NC_000020.9:g.61510333T=	NCBI36
NG_009004.1:g.69105A=
NG_009004.2:g.69105A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1818A=	ENSP00000516702.1:p.Arg606=
ENST00000359125.7:c.1764A= MANE Select	ENSP00000352035.2:p.Arg588=
ENST00000636614.1:c.90A=
ENST00000637193.1:c.1161A=	ENSP00000490734.1:p.Arg387=
ENST00000344462.8:c.1671A=	ENSP00000339611.4:p.Arg557=
ENST00000357249.6:c.1332A=	ENSP00000349789.3:p.Arg444=
ENST00000359125.6:c.1764A=	ENSP00000352035.2:p.Arg588=
ENST00000360480.7:c.1680A=	ENSP00000353668.3:p.Arg560=
ENST00000370224.5:c.1788A=	ENSP00000359244.2:p.Arg596=
ENST00000625514.2:c.1752A=	ENSP00000486040.1:p.Arg584=
ENST00000626839.2:c.1710A=	ENSP00000486706.1:p.Arg570=
ENST00000629241.2:c.1680A=	ENSP00000487142.1:p.Arg560=
ENST00000629676.2:c.1679+4914A=	ENSP00000486194.1:n.1679+4914A=
NM_004518.4:c.1680A=	NP_004509.2:p.Arg560=
NM_172106.1:c.1710A=	NP_742104.1:p.Arg570=
NM_172107.2:c.1764A=	NP_742105.1:p.Arg588=
NM_172108.3:c.1671A=	NP_742106.1:p.Arg557=
XM_006723787.1:c.1806A=	XP_006723850.1:p.Gly602=
XM_011528807.1:c.1872A=	XP_011527109.1:p.Arg624=
XM_011528808.1:c.1869A=	XP_011527110.1:p.Arg623=
XM_011528809.1:c.1842A=	XP_011527111.1:p.Arg614=
XM_011528810.1:c.1818A=	XP_011527112.1:p.Arg606=
XM_011528811.1:c.1788A=	XP_011527113.1:p.Arg596=
XM_011528812.1:c.1761A=	XP_011527114.1:p.Arg587=
XM_011528813.1:c.1746A=	XP_011527115.1:p.Arg582=
XM_011528814.1:c.1353A=	XP_011527116.1:p.Arg451=
XM_011528815.1:c.1872A=	XP_011527117.1:p.Arg624=
NM_004518.5:c.1680A=	NP_004509.2:p.Arg560=
NM_172106.2:c.1710A=	NP_742104.1:p.Arg570=
NM_172107.3:c.1764A=	NP_742105.1:p.Arg588=
NM_172108.4:c.1671A=	NP_742106.1:p.Arg557=
XM_011528810.2:c.1818A=	XP_011527112.1:p.Arg606=
XM_011528811.2:c.1788A=	XP_011527113.1:p.Arg596=
XM_017027841.2:c.1815A=	XP_016883330.1:p.Arg605=
XM_017027842.2:c.1752A=	XP_016883331.1:p.Gly584=
XM_017027843.1:c.1749A=	XP_016883332.1:p.Arg583=
XM_017027844.2:c.1707A=	XP_016883333.1:p.Arg569=
XM_017027845.1:c.780A=	XP_016883334.1:p.Arg260=
NM_004518.6:c.1680A=	NP_004509.2:p.Arg560=
NM_172106.3:c.1710A=	NP_742104.1:p.Arg570=
NM_172107.4:c.1764A= MANE Select	NP_742105.1:p.Arg588=
NM_172108.5:c.1671A=	NP_742106.1:p.Arg557=
NM_001382235.1:c.1818A=	NP_001369164.1:p.Arg606=