Canonical Allele Identifier: CA2374774340

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406968G= , CM000682.2:g.63406968G=	GRCh38
NC_000020.10:g.62038321G= , CM000682.1:g.62038321G=	GRCh37
NC_000020.9:g.61508765G=	NCBI36
NG_009004.1:g.70673C=
NG_009004.2:g.70673C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2349C=	ENSP00000516702.1:p.Phe783=
ENST00000359125.7:c.2295C= MANE Select	ENSP00000352035.2:p.Phe765=
ENST00000637193.1:c.1692C=	ENSP00000490734.1:p.Phe564=
ENST00000344462.8:c.2202C=	ENSP00000339611.4:p.Phe734=
ENST00000357249.6:c.1863C=	ENSP00000349789.3:p.Phe621=
ENST00000359125.6:c.2295C=	ENSP00000352035.2:p.Phe765=
ENST00000360480.7:c.2211C=	ENSP00000353668.3:p.Phe737=
ENST00000370224.5:c.2241+78C=	ENSP00000359244.2:n.2241+78C=
ENST00000625514.2:c.2205+78C=	ENSP00000486040.1:n.2205+78C=
ENST00000626839.2:c.2241C=	ENSP00000486706.1:p.Phe747=
ENST00000629241.2:c.2133+78C=	ENSP00000487142.1:n.2133+78C=
ENST00000629676.2:c.1680-6125C=	ENSP00000486194.1:n.1680-6125C=
NM_004518.4:c.2211C=	NP_004509.2:p.Phe737=
NM_172106.1:c.2241C=	NP_742104.1:p.Phe747=
NM_172107.2:c.2295C=	NP_742105.1:p.Phe765=
NM_172108.3:c.2202C=	NP_742106.1:p.Phe734=
XM_006723787.1:c.2337C=	XP_006723850.1:p.Phe779=
XM_011528807.1:c.2403C=	XP_011527109.1:p.Phe801=
XM_011528808.1:c.2400C=	XP_011527110.1:p.Phe800=
XM_011528809.1:c.2373C=	XP_011527111.1:p.Phe791=
XM_011528810.1:c.2349C=	XP_011527112.1:p.Phe783=
XM_011528811.1:c.2319C=	XP_011527113.1:p.Phe773=
XM_011528812.1:c.2292C=	XP_011527114.1:p.Phe764=
XM_011528813.1:c.2277C=	XP_011527115.1:p.Phe759=
XM_011528814.1:c.1884C=	XP_011527116.1:p.Phe628=
NM_004518.5:c.2211C=	NP_004509.2:p.Phe737=
NM_172106.2:c.2241C=	NP_742104.1:p.Phe747=
NM_172107.3:c.2295C=	NP_742105.1:p.Phe765=
NM_172108.4:c.2202C=	NP_742106.1:p.Phe734=
XM_011528810.2:c.2349C=	XP_011527112.1:p.Phe783=
XM_011528811.2:c.2319C=	XP_011527113.1:p.Phe773=
XM_017027841.2:c.2346C=	XP_016883330.1:p.Phe782=
XM_017027842.2:c.2283C=	XP_016883331.1:p.Phe761=
XM_017027843.1:c.2280C=	XP_016883332.1:p.Phe760=
XM_017027844.2:c.2238C=	XP_016883333.1:p.Phe746=
XM_017027845.1:c.1311C=	XP_016883334.1:p.Phe437=
NM_004518.6:c.2211C=	NP_004509.2:p.Phe737=
NM_172106.3:c.2241C=	NP_742104.1:p.Phe747=
NM_172107.4:c.2295C= MANE Select	NP_742105.1:p.Phe765=
NM_172108.5:c.2202C=	NP_742106.1:p.Phe734=
NM_001382235.1:c.2349C=	NP_001369164.1:p.Phe783=