Canonical Allele Identifier: CA2374774494

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407218C= , CM000682.2:g.63407218C=	GRCh38
NC_000020.10:g.62038571C= , CM000682.1:g.62038571C=	GRCh37
NC_000020.9:g.61509015C=	NCBI36
NG_009004.1:g.70423G=
NG_009004.2:g.70423G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2099G=	ENSP00000516702.1:p.Arg700=
ENST00000359125.7:c.2045G= MANE Select	ENSP00000352035.2:p.Arg682=
ENST00000637193.1:c.1442G=	ENSP00000490734.1:p.Arg481=
ENST00000344462.8:c.1952G=	ENSP00000339611.4:p.Arg651=
ENST00000357249.6:c.1613G=	ENSP00000349789.3:p.Arg538=
ENST00000359125.6:c.2045G=	ENSP00000352035.2:p.Arg682=
ENST00000360480.7:c.1961G=	ENSP00000353668.3:p.Arg654=
ENST00000370224.5:c.2069G=	ENSP00000359244.2:p.Arg690=
ENST00000625514.2:c.2033G=	ENSP00000486040.1:p.Arg678=
ENST00000626839.2:c.1991G=	ENSP00000486706.1:p.Arg664=
ENST00000629241.2:c.1961G=	ENSP00000487142.1:p.Arg654=
ENST00000629676.2:c.1679+6232G=	ENSP00000486194.1:n.1679+6232G=
NM_004518.4:c.1961G=	NP_004509.2:p.Arg654=
NM_172106.1:c.1991G=	NP_742104.1:p.Arg664=
NM_172107.2:c.2045G=	NP_742105.1:p.Arg682=
NM_172108.3:c.1952G=	NP_742106.1:p.Arg651=
XM_006723787.1:c.2087G=	XP_006723850.1:p.Arg696=
XM_011528807.1:c.2153G=	XP_011527109.1:p.Arg718=
XM_011528808.1:c.2150G=	XP_011527110.1:p.Arg717=
XM_011528809.1:c.2123G=	XP_011527111.1:p.Arg708=
XM_011528810.1:c.2099G=	XP_011527112.1:p.Arg700=
XM_011528811.1:c.2069G=	XP_011527113.1:p.Arg690=
XM_011528812.1:c.2042G=	XP_011527114.1:p.Arg681=
XM_011528813.1:c.2027G=	XP_011527115.1:p.Arg676=
XM_011528814.1:c.1634G=	XP_011527116.1:p.Arg545=
NM_004518.5:c.1961G=	NP_004509.2:p.Arg654=
NM_172106.2:c.1991G=	NP_742104.1:p.Arg664=
NM_172107.3:c.2045G=	NP_742105.1:p.Arg682=
NM_172108.4:c.1952G=	NP_742106.1:p.Arg651=
XM_011528810.2:c.2099G=	XP_011527112.1:p.Arg700=
XM_011528811.2:c.2069G=	XP_011527113.1:p.Arg690=
XM_017027841.2:c.2096G=	XP_016883330.1:p.Arg699=
XM_017027842.2:c.2033G=	XP_016883331.1:p.Arg678=
XM_017027843.1:c.2030G=	XP_016883332.1:p.Arg677=
XM_017027844.2:c.1988G=	XP_016883333.1:p.Arg663=
XM_017027845.1:c.1061G=	XP_016883334.1:p.Arg354=
NM_004518.6:c.1961G=	NP_004509.2:p.Arg654=
NM_172106.3:c.1991G=	NP_742104.1:p.Arg664=
NM_172107.4:c.2045G= MANE Select	NP_742105.1:p.Arg682=
NM_172108.5:c.1952G=	NP_742106.1:p.Arg651=
NM_001382235.1:c.2099G=	NP_001369164.1:p.Arg700=