Canonical Allele Identifier: CA2374774192

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406686C= , CM000682.2:g.63406686C=	GRCh38
NC_000020.10:g.62038039C= , CM000682.1:g.62038039C=	GRCh37
NC_000020.9:g.61508483C=	NCBI36
NG_009004.1:g.70955G=
NG_009004.2:g.70955G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2631G=	ENSP00000516702.1:p.Glu877=
ENST00000359125.7:c.2577G= MANE Select	ENSP00000352035.2:p.Glu859=
ENST00000637193.1:c.1974G=	ENSP00000490734.1:p.Glu658=
ENST00000344462.8:c.2484G=	ENSP00000339611.4:p.Glu828=
ENST00000357249.6:c.2145G=	ENSP00000349789.3:p.Glu715=
ENST00000359125.6:c.2577G=	ENSP00000352035.2:p.Glu859=
ENST00000360480.7:c.2493G=	ENSP00000353668.3:p.Glu831=
ENST00000370224.5:c.2241+360G=	ENSP00000359244.2:n.2241+360G=
ENST00000625514.2:c.2205+360G=	ENSP00000486040.1:n.2205+360G=
ENST00000626839.2:c.2523G=	ENSP00000486706.1:p.Glu841=
ENST00000629241.2:c.2133+360G=	ENSP00000487142.1:n.2133+360G=
ENST00000629676.2:c.1680-5843G=	ENSP00000486194.1:n.1680-5843G=
NM_004518.4:c.2493G=	NP_004509.2:p.Glu831=
NM_172106.1:c.2523G=	NP_742104.1:p.Glu841=
NM_172107.2:c.2577G=	NP_742105.1:p.Glu859=
NM_172108.3:c.2484G=	NP_742106.1:p.Glu828=
XM_006723787.1:c.2619G=	XP_006723850.1:p.Glu873=
XM_011528807.1:c.2685G=	XP_011527109.1:p.Glu895=
XM_011528808.1:c.2682G=	XP_011527110.1:p.Glu894=
XM_011528809.1:c.2655G=	XP_011527111.1:p.Glu885=
XM_011528810.1:c.2631G=	XP_011527112.1:p.Glu877=
XM_011528811.1:c.2601G=	XP_011527113.1:p.Glu867=
XM_011528812.1:c.2574G=	XP_011527114.1:p.Glu858=
XM_011528813.1:c.2559G=	XP_011527115.1:p.Glu853=
XM_011528814.1:c.2166G=	XP_011527116.1:p.Glu722=
NM_004518.5:c.2493G=	NP_004509.2:p.Glu831=
NM_172106.2:c.2523G=	NP_742104.1:p.Glu841=
NM_172107.3:c.2577G=	NP_742105.1:p.Glu859=
NM_172108.4:c.2484G=	NP_742106.1:p.Glu828=
XM_011528810.2:c.2631G=	XP_011527112.1:p.Glu877=
XM_011528811.2:c.2601G=	XP_011527113.1:p.Glu867=
XM_017027841.2:c.2628G=	XP_016883330.1:p.Glu876=
XM_017027842.2:c.2565G=	XP_016883331.1:p.Glu855=
XM_017027843.1:c.2562G=	XP_016883332.1:p.Glu854=
XM_017027844.2:c.2520G=	XP_016883333.1:p.Glu840=
XM_017027845.1:c.1593G=	XP_016883334.1:p.Glu531=
NM_004518.6:c.2493G=	NP_004509.2:p.Glu831=
NM_172106.3:c.2523G=	NP_742104.1:p.Glu841=
NM_172107.4:c.2577G= MANE Select	NP_742105.1:p.Glu859=
NM_172108.5:c.2484G=	NP_742106.1:p.Glu828=
NM_001382235.1:c.2631G=	NP_001369164.1:p.Glu877=