Canonical Allele Identifier: CA2374774285

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406880G= , CM000682.2:g.63406880G=	GRCh38
NC_000020.10:g.62038233G= , CM000682.1:g.62038233G=	GRCh37
NC_000020.9:g.61508677G=	NCBI36
NG_009004.1:g.70761C=
NG_009004.2:g.70761C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2437C=	ENSP00000516702.1:p.His813=
ENST00000359125.7:c.2383C= MANE Select	ENSP00000352035.2:p.His795=
ENST00000637193.1:c.1780C=	ENSP00000490734.1:p.His594=
ENST00000344462.8:c.2290C=	ENSP00000339611.4:p.His764=
ENST00000357249.6:c.1951C=	ENSP00000349789.3:p.His651=
ENST00000359125.6:c.2383C=	ENSP00000352035.2:p.His795=
ENST00000360480.7:c.2299C=	ENSP00000353668.3:p.His767=
ENST00000370224.5:c.2241+166C=	ENSP00000359244.2:n.2241+166C=
ENST00000625514.2:c.2205+166C=	ENSP00000486040.1:n.2205+166C=
ENST00000626839.2:c.2329C=	ENSP00000486706.1:p.His777=
ENST00000629241.2:c.2133+166C=	ENSP00000487142.1:n.2133+166C=
ENST00000629676.2:c.1680-6037C=	ENSP00000486194.1:n.1680-6037C=
NM_004518.4:c.2299C=	NP_004509.2:p.His767=
NM_172106.1:c.2329C=	NP_742104.1:p.His777=
NM_172107.2:c.2383C=	NP_742105.1:p.His795=
NM_172108.3:c.2290C=	NP_742106.1:p.His764=
XM_006723787.1:c.2425C=	XP_006723850.1:p.His809=
XM_011528807.1:c.2491C=	XP_011527109.1:p.His831=
XM_011528808.1:c.2488C=	XP_011527110.1:p.His830=
XM_011528809.1:c.2461C=	XP_011527111.1:p.His821=
XM_011528810.1:c.2437C=	XP_011527112.1:p.His813=
XM_011528811.1:c.2407C=	XP_011527113.1:p.His803=
XM_011528812.1:c.2380C=	XP_011527114.1:p.His794=
XM_011528813.1:c.2365C=	XP_011527115.1:p.His789=
XM_011528814.1:c.1972C=	XP_011527116.1:p.His658=
NM_004518.5:c.2299C=	NP_004509.2:p.His767=
NM_172106.2:c.2329C=	NP_742104.1:p.His777=
NM_172107.3:c.2383C=	NP_742105.1:p.His795=
NM_172108.4:c.2290C=	NP_742106.1:p.His764=
XM_011528810.2:c.2437C=	XP_011527112.1:p.His813=
XM_011528811.2:c.2407C=	XP_011527113.1:p.His803=
XM_017027841.2:c.2434C=	XP_016883330.1:p.His812=
XM_017027842.2:c.2371C=	XP_016883331.1:p.His791=
XM_017027843.1:c.2368C=	XP_016883332.1:p.His790=
XM_017027844.2:c.2326C=	XP_016883333.1:p.His776=
XM_017027845.1:c.1399C=	XP_016883334.1:p.His467=
NM_004518.6:c.2299C=	NP_004509.2:p.His767=
NM_172106.3:c.2329C=	NP_742104.1:p.His777=
NM_172107.4:c.2383C= MANE Select	NP_742105.1:p.His795=
NM_172108.5:c.2290C=	NP_742106.1:p.His764=
NM_001382235.1:c.2437C=	NP_001369164.1:p.His813=