Canonical Allele Identifier: CA2374774549

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407326T= , CM000682.2:g.63407326T=	GRCh38
NC_000020.10:g.62038679T= , CM000682.1:g.62038679T=	GRCh37
NC_000020.9:g.61509123T=	NCBI36
NG_009004.1:g.70315A=
NG_009004.2:g.70315A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1991A=	ENSP00000516702.1:p.Gln664=
ENST00000359125.7:c.1937A= MANE Select	ENSP00000352035.2:p.Gln646=
ENST00000637193.1:c.1334A=	ENSP00000490734.1:p.Gln445=
ENST00000637338.1:n.94A=
ENST00000344462.8:c.1844A=	ENSP00000339611.4:p.Gln615=
ENST00000357249.6:c.1505A=	ENSP00000349789.3:p.Gln502=
ENST00000359125.6:c.1937A=	ENSP00000352035.2:p.Gln646=
ENST00000360480.7:c.1853A=	ENSP00000353668.3:p.Gln618=
ENST00000370224.5:c.1961A=	ENSP00000359244.2:p.Gln654=
ENST00000625514.2:c.1925A=	ENSP00000486040.1:p.Gln642=
ENST00000626839.2:c.1883A=	ENSP00000486706.1:p.Gln628=
ENST00000629241.2:c.1853A=	ENSP00000487142.1:p.Gln618=
ENST00000629676.2:c.1679+6124A=	ENSP00000486194.1:n.1679+6124A=
NM_004518.4:c.1853A=	NP_004509.2:p.Gln618=
NM_172106.1:c.1883A=	NP_742104.1:p.Gln628=
NM_172107.2:c.1937A=	NP_742105.1:p.Gln646=
NM_172108.3:c.1844A=	NP_742106.1:p.Gln615=
XM_006723787.1:c.1979A=	XP_006723850.1:p.Gln660=
XM_011528807.1:c.2045A=	XP_011527109.1:p.Gln682=
XM_011528808.1:c.2042A=	XP_011527110.1:p.Gln681=
XM_011528809.1:c.2015A=	XP_011527111.1:p.Gln672=
XM_011528810.1:c.1991A=	XP_011527112.1:p.Gln664=
XM_011528811.1:c.1961A=	XP_011527113.1:p.Gln654=
XM_011528812.1:c.1934A=	XP_011527114.1:p.Gln645=
XM_011528813.1:c.1919A=	XP_011527115.1:p.Gln640=
XM_011528814.1:c.1526A=	XP_011527116.1:p.Gln509=
NM_004518.5:c.1853A=	NP_004509.2:p.Gln618=
NM_172106.2:c.1883A=	NP_742104.1:p.Gln628=
NM_172107.3:c.1937A=	NP_742105.1:p.Gln646=
NM_172108.4:c.1844A=	NP_742106.1:p.Gln615=
XM_011528810.2:c.1991A=	XP_011527112.1:p.Gln664=
XM_011528811.2:c.1961A=	XP_011527113.1:p.Gln654=
XM_017027841.2:c.1988A=	XP_016883330.1:p.Gln663=
XM_017027842.2:c.1925A=	XP_016883331.1:p.Gln642=
XM_017027843.1:c.1922A=	XP_016883332.1:p.Gln641=
XM_017027844.2:c.1880A=	XP_016883333.1:p.Gln627=
XM_017027845.1:c.953A=	XP_016883334.1:p.Gln318=
NM_004518.6:c.1853A=	NP_004509.2:p.Gln618=
NM_172106.3:c.1883A=	NP_742104.1:p.Gln628=
NM_172107.4:c.1937A= MANE Select	NP_742105.1:p.Gln646=
NM_172108.5:c.1844A=	NP_742106.1:p.Gln615=
NM_001382235.1:c.1991A=	NP_001369164.1:p.Gln664=