Canonical Allele Identifier: CA2374774431

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407130C= , CM000682.2:g.63407130C=	GRCh38
NC_000020.10:g.62038483C= , CM000682.1:g.62038483C=	GRCh37
NC_000020.9:g.61508927C=	NCBI36
NG_009004.1:g.70511G=
NG_009004.2:g.70511G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2187G=	ENSP00000516702.1:p.Gln729=
ENST00000359125.7:c.2133G= MANE Select	ENSP00000352035.2:p.Gln711=
ENST00000637193.1:c.1530G=	ENSP00000490734.1:p.Gln510=
ENST00000344462.8:c.2040G=	ENSP00000339611.4:p.Gln680=
ENST00000357249.6:c.1701G=	ENSP00000349789.3:p.Gln567=
ENST00000359125.6:c.2133G=	ENSP00000352035.2:p.Gln711=
ENST00000360480.7:c.2049G=	ENSP00000353668.3:p.Gln683=
ENST00000370224.5:c.2157G=	ENSP00000359244.2:p.Gln719=
ENST00000625514.2:c.2121G=	ENSP00000486040.1:p.Gln707=
ENST00000626839.2:c.2079G=	ENSP00000486706.1:p.Gln693=
ENST00000629241.2:c.2049G=	ENSP00000487142.1:p.Gln683=
ENST00000629676.2:c.1680-6287G=	ENSP00000486194.1:n.1680-6287G=
NM_004518.4:c.2049G=	NP_004509.2:p.Gln683=
NM_172106.1:c.2079G=	NP_742104.1:p.Gln693=
NM_172107.2:c.2133G=	NP_742105.1:p.Gln711=
NM_172108.3:c.2040G=	NP_742106.1:p.Gln680=
XM_006723787.1:c.2175G=	XP_006723850.1:p.Gln725=
XM_011528807.1:c.2241G=	XP_011527109.1:p.Gln747=
XM_011528808.1:c.2238G=	XP_011527110.1:p.Gln746=
XM_011528809.1:c.2211G=	XP_011527111.1:p.Gln737=
XM_011528810.1:c.2187G=	XP_011527112.1:p.Gln729=
XM_011528811.1:c.2157G=	XP_011527113.1:p.Gln719=
XM_011528812.1:c.2130G=	XP_011527114.1:p.Gln710=
XM_011528813.1:c.2115G=	XP_011527115.1:p.Gln705=
XM_011528814.1:c.1722G=	XP_011527116.1:p.Gln574=
NM_004518.5:c.2049G=	NP_004509.2:p.Gln683=
NM_172106.2:c.2079G=	NP_742104.1:p.Gln693=
NM_172107.3:c.2133G=	NP_742105.1:p.Gln711=
NM_172108.4:c.2040G=	NP_742106.1:p.Gln680=
XM_011528810.2:c.2187G=	XP_011527112.1:p.Gln729=
XM_011528811.2:c.2157G=	XP_011527113.1:p.Gln719=
XM_017027841.2:c.2184G=	XP_016883330.1:p.Gln728=
XM_017027842.2:c.2121G=	XP_016883331.1:p.Gln707=
XM_017027843.1:c.2118G=	XP_016883332.1:p.Gln706=
XM_017027844.2:c.2076G=	XP_016883333.1:p.Gln692=
XM_017027845.1:c.1149G=	XP_016883334.1:p.Gln383=
NM_004518.6:c.2049G=	NP_004509.2:p.Gln683=
NM_172106.3:c.2079G=	NP_742104.1:p.Gln693=
NM_172107.4:c.2133G= MANE Select	NP_742105.1:p.Gln711=
NM_172108.5:c.2040G=	NP_742106.1:p.Gln680=
NM_001382235.1:c.2187G=	NP_001369164.1:p.Gln729=