Canonical Allele Identifier: CA2374774252

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406798G= , CM000682.2:g.63406798G=	GRCh38
NC_000020.10:g.62038151G= , CM000682.1:g.62038151G=	GRCh37
NC_000020.9:g.61508595G=	NCBI36
NG_009004.1:g.70843C=
NG_009004.2:g.70843C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2519C=	ENSP00000516702.1:p.Ala840=
ENST00000359125.7:c.2465C= MANE Select	ENSP00000352035.2:p.Ala822=
ENST00000637193.1:c.1862C=	ENSP00000490734.1:p.Ala621=
ENST00000344462.8:c.2372C=	ENSP00000339611.4:p.Ala791=
ENST00000357249.6:c.2033C=	ENSP00000349789.3:p.Ala678=
ENST00000359125.6:c.2465C=	ENSP00000352035.2:p.Ala822=
ENST00000360480.7:c.2381C=	ENSP00000353668.3:p.Ala794=
ENST00000370224.5:c.2241+248C=	ENSP00000359244.2:n.2241+248C=
ENST00000625514.2:c.2205+248C=	ENSP00000486040.1:n.2205+248C=
ENST00000626839.2:c.2411C=	ENSP00000486706.1:p.Ala804=
ENST00000629241.2:c.2133+248C=	ENSP00000487142.1:n.2133+248C=
ENST00000629676.2:c.1680-5955C=	ENSP00000486194.1:n.1680-5955C=
NM_004518.4:c.2381C=	NP_004509.2:p.Ala794=
NM_172106.1:c.2411C=	NP_742104.1:p.Ala804=
NM_172107.2:c.2465C=	NP_742105.1:p.Ala822=
NM_172108.3:c.2372C=	NP_742106.1:p.Ala791=
XM_006723787.1:c.2507C=	XP_006723850.1:p.Ala836=
XM_011528807.1:c.2573C=	XP_011527109.1:p.Ala858=
XM_011528808.1:c.2570C=	XP_011527110.1:p.Ala857=
XM_011528809.1:c.2543C=	XP_011527111.1:p.Ala848=
XM_011528810.1:c.2519C=	XP_011527112.1:p.Ala840=
XM_011528811.1:c.2489C=	XP_011527113.1:p.Ala830=
XM_011528812.1:c.2462C=	XP_011527114.1:p.Ala821=
XM_011528813.1:c.2447C=	XP_011527115.1:p.Ala816=
XM_011528814.1:c.2054C=	XP_011527116.1:p.Ala685=
NM_004518.5:c.2381C=	NP_004509.2:p.Ala794=
NM_172106.2:c.2411C=	NP_742104.1:p.Ala804=
NM_172107.3:c.2465C=	NP_742105.1:p.Ala822=
NM_172108.4:c.2372C=	NP_742106.1:p.Ala791=
XM_011528810.2:c.2519C=	XP_011527112.1:p.Ala840=
XM_011528811.2:c.2489C=	XP_011527113.1:p.Ala830=
XM_017027841.2:c.2516C=	XP_016883330.1:p.Ala839=
XM_017027842.2:c.2453C=	XP_016883331.1:p.Ala818=
XM_017027843.1:c.2450C=	XP_016883332.1:p.Ala817=
XM_017027844.2:c.2408C=	XP_016883333.1:p.Ala803=
XM_017027845.1:c.1481C=	XP_016883334.1:p.Ala494=
NM_004518.6:c.2381C=	NP_004509.2:p.Ala794=
NM_172106.3:c.2411C=	NP_742104.1:p.Ala804=
NM_172107.4:c.2465C= MANE Select	NP_742105.1:p.Ala822=
NM_172108.5:c.2372C=	NP_742106.1:p.Ala791=
NM_001382235.1:c.2519C=	NP_001369164.1:p.Ala840=