Canonical Allele Identifier: CA2374774336

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406963C= , CM000682.2:g.63406963C=	GRCh38
NC_000020.10:g.62038316C= , CM000682.1:g.62038316C=	GRCh37
NC_000020.9:g.61508760C=	NCBI36
NG_009004.1:g.70678G=
NG_009004.2:g.70678G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2354G=	ENSP00000516702.1:p.Arg785=
ENST00000359125.7:c.2300G= MANE Select	ENSP00000352035.2:p.Arg767=
ENST00000637193.1:c.1697G=	ENSP00000490734.1:p.Arg566=
ENST00000344462.8:c.2207G=	ENSP00000339611.4:p.Arg736=
ENST00000357249.6:c.1868G=	ENSP00000349789.3:p.Arg623=
ENST00000359125.6:c.2300G=	ENSP00000352035.2:p.Arg767=
ENST00000360480.7:c.2216G=	ENSP00000353668.3:p.Arg739=
ENST00000370224.5:c.2241+83G=	ENSP00000359244.2:n.2241+83G=
ENST00000625514.2:c.2205+83G=	ENSP00000486040.1:n.2205+83G=
ENST00000626839.2:c.2246G=	ENSP00000486706.1:p.Arg749=
ENST00000629241.2:c.2133+83G=	ENSP00000487142.1:n.2133+83G=
ENST00000629676.2:c.1680-6120G=	ENSP00000486194.1:n.1680-6120G=
NM_004518.4:c.2216G=	NP_004509.2:p.Arg739=
NM_172106.1:c.2246G=	NP_742104.1:p.Arg749=
NM_172107.2:c.2300G=	NP_742105.1:p.Arg767=
NM_172108.3:c.2207G=	NP_742106.1:p.Arg736=
XM_006723787.1:c.2342G=	XP_006723850.1:p.Arg781=
XM_011528807.1:c.2408G=	XP_011527109.1:p.Arg803=
XM_011528808.1:c.2405G=	XP_011527110.1:p.Arg802=
XM_011528809.1:c.2378G=	XP_011527111.1:p.Arg793=
XM_011528810.1:c.2354G=	XP_011527112.1:p.Arg785=
XM_011528811.1:c.2324G=	XP_011527113.1:p.Arg775=
XM_011528812.1:c.2297G=	XP_011527114.1:p.Arg766=
XM_011528813.1:c.2282G=	XP_011527115.1:p.Arg761=
XM_011528814.1:c.1889G=	XP_011527116.1:p.Arg630=
NM_004518.5:c.2216G=	NP_004509.2:p.Arg739=
NM_172106.2:c.2246G=	NP_742104.1:p.Arg749=
NM_172107.3:c.2300G=	NP_742105.1:p.Arg767=
NM_172108.4:c.2207G=	NP_742106.1:p.Arg736=
XM_011528810.2:c.2354G=	XP_011527112.1:p.Arg785=
XM_011528811.2:c.2324G=	XP_011527113.1:p.Arg775=
XM_017027841.2:c.2351G=	XP_016883330.1:p.Arg784=
XM_017027842.2:c.2288G=	XP_016883331.1:p.Arg763=
XM_017027843.1:c.2285G=	XP_016883332.1:p.Arg762=
XM_017027844.2:c.2243G=	XP_016883333.1:p.Arg748=
XM_017027845.1:c.1316G=	XP_016883334.1:p.Arg439=
NM_004518.6:c.2216G=	NP_004509.2:p.Arg739=
NM_172106.3:c.2246G=	NP_742104.1:p.Arg749=
NM_172107.4:c.2300G= MANE Select	NP_742105.1:p.Arg767=
NM_172108.5:c.2207G=	NP_742106.1:p.Arg736=
NM_001382235.1:c.2354G=	NP_001369164.1:p.Arg785=