Canonical Allele Identifier: CA2374778304

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414130T= , CM000682.2:g.63414130T=	GRCh38
NC_000020.10:g.62045483T= , CM000682.1:g.62045483T=	GRCh37
NC_000020.9:g.61515927T=	NCBI36
NG_009004.1:g.63511A=
NG_009004.2:g.63511A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1535A=	ENSP00000516702.1:p.Glu512=
ENST00000359125.7:c.1589A= MANE Select	ENSP00000352035.2:p.Glu530=
ENST00000637193.1:c.986A=	ENSP00000490734.1:p.Glu329=
ENST00000344462.8:c.1496A=	ENSP00000339611.4:p.Glu499=
ENST00000357249.6:c.1157A=	ENSP00000349789.3:p.Glu386=
ENST00000359125.6:c.1589A=	ENSP00000352035.2:p.Glu530=
ENST00000360480.7:c.1505A=	ENSP00000353668.3:p.Glu502=
ENST00000370224.5:c.1505A=	ENSP00000359244.2:p.Glu502=
ENST00000625514.2:c.1469A=	ENSP00000486040.1:p.Glu490=
ENST00000626839.2:c.1535A=	ENSP00000486706.1:p.Glu512=
ENST00000627221.2:c.646A=
ENST00000629241.2:c.1505A=	ENSP00000487142.1:p.Glu502=
ENST00000629318.1:c.197A=	ENSP00000487384.1:p.Glu66=
ENST00000629676.2:c.1505A=	ENSP00000486194.1:p.Glu502=
NM_004518.4:c.1505A=	NP_004509.2:p.Glu502=
NM_172106.1:c.1535A=	NP_742104.1:p.Glu512=
NM_172107.2:c.1589A=	NP_742105.1:p.Glu530=
NM_172108.3:c.1496A=	NP_742106.1:p.Glu499=
XM_006723787.1:c.1589A=	XP_006723850.1:p.Glu530=
XM_011528807.1:c.1589A=	XP_011527109.1:p.Glu530=
XM_011528808.1:c.1586A=	XP_011527110.1:p.Glu529=
XM_011528809.1:c.1559A=	XP_011527111.1:p.Glu520=
XM_011528810.1:c.1535A=	XP_011527112.1:p.Glu512=
XM_011528811.1:c.1505A=	XP_011527113.1:p.Glu502=
XM_011528812.1:c.1586A=	XP_011527114.1:p.Glu529=
XM_011528813.1:c.1463A=	XP_011527115.1:p.Glu488=
XM_011528814.1:c.1070A=	XP_011527116.1:p.Glu357=
XM_011528815.1:c.1589A=	XP_011527117.1:p.Glu530=
NM_004518.5:c.1505A=	NP_004509.2:p.Glu502=
NM_172106.2:c.1535A=	NP_742104.1:p.Glu512=
NM_172107.3:c.1589A=	NP_742105.1:p.Glu530=
NM_172108.4:c.1496A=	NP_742106.1:p.Glu499=
XM_011528810.2:c.1535A=	XP_011527112.1:p.Glu512=
XM_011528811.2:c.1505A=	XP_011527113.1:p.Glu502=
XM_017027841.2:c.1532A=	XP_016883330.1:p.Glu511=
XM_017027842.2:c.1535A=	XP_016883331.1:p.Glu512=
XM_017027843.1:c.1466A=	XP_016883332.1:p.Glu489=
XM_017027844.2:c.1532A=	XP_016883333.1:p.Glu511=
XM_017027845.1:c.497A=	XP_016883334.1:p.Glu166=
NM_004518.6:c.1505A=	NP_004509.2:p.Glu502=
NM_172106.3:c.1535A=	NP_742104.1:p.Glu512=
NM_172107.4:c.1589A= MANE Select	NP_742105.1:p.Glu530=
NM_172108.5:c.1496A=	NP_742106.1:p.Glu499=
NM_001382235.1:c.1535A=	NP_001369164.1:p.Glu512=