Canonical Allele Identifier: CA2374778315

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414146A= , CM000682.2:g.63414146A=	GRCh38
NC_000020.10:g.62045499A= , CM000682.1:g.62045499A=	GRCh37
NC_000020.9:g.61515943A=	NCBI36
NG_009004.1:g.63495T=
NG_009004.2:g.63495T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1519T=	ENSP00000516702.1:p.Cys507=
ENST00000359125.7:c.1573T= MANE Select	ENSP00000352035.2:p.Cys525=
ENST00000637193.1:c.970T=	ENSP00000490734.1:p.Cys324=
ENST00000344462.8:c.1480T=	ENSP00000339611.4:p.Cys494=
ENST00000357249.6:c.1141T=	ENSP00000349789.3:p.Cys381=
ENST00000359125.6:c.1573T=	ENSP00000352035.2:p.Cys525=
ENST00000360480.7:c.1489T=	ENSP00000353668.3:p.Cys497=
ENST00000370224.5:c.1489T=	ENSP00000359244.2:p.Cys497=
ENST00000625514.2:c.1453T=	ENSP00000486040.1:p.Cys485=
ENST00000626839.2:c.1519T=	ENSP00000486706.1:p.Cys507=
ENST00000627221.2:c.630T=
ENST00000629241.2:c.1489T=	ENSP00000487142.1:p.Cys497=
ENST00000629318.1:c.181T=	ENSP00000487384.1:p.Cys61=
ENST00000629676.2:c.1489T=	ENSP00000486194.1:p.Cys497=
NM_004518.4:c.1489T=	NP_004509.2:p.Cys497=
NM_172106.1:c.1519T=	NP_742104.1:p.Cys507=
NM_172107.2:c.1573T=	NP_742105.1:p.Cys525=
NM_172108.3:c.1480T=	NP_742106.1:p.Cys494=
XM_006723787.1:c.1573T=	XP_006723850.1:p.Cys525=
XM_011528807.1:c.1573T=	XP_011527109.1:p.Cys525=
XM_011528808.1:c.1570T=	XP_011527110.1:p.Cys524=
XM_011528809.1:c.1543T=	XP_011527111.1:p.Cys515=
XM_011528810.1:c.1519T=	XP_011527112.1:p.Cys507=
XM_011528811.1:c.1489T=	XP_011527113.1:p.Cys497=
XM_011528812.1:c.1570T=	XP_011527114.1:p.Cys524=
XM_011528813.1:c.1447T=	XP_011527115.1:p.Cys483=
XM_011528814.1:c.1054T=	XP_011527116.1:p.Cys352=
XM_011528815.1:c.1573T=	XP_011527117.1:p.Cys525=
NM_004518.5:c.1489T=	NP_004509.2:p.Cys497=
NM_172106.2:c.1519T=	NP_742104.1:p.Cys507=
NM_172107.3:c.1573T=	NP_742105.1:p.Cys525=
NM_172108.4:c.1480T=	NP_742106.1:p.Cys494=
XM_011528810.2:c.1519T=	XP_011527112.1:p.Cys507=
XM_011528811.2:c.1489T=	XP_011527113.1:p.Cys497=
XM_017027841.2:c.1516T=	XP_016883330.1:p.Cys506=
XM_017027842.2:c.1519T=	XP_016883331.1:p.Cys507=
XM_017027843.1:c.1450T=	XP_016883332.1:p.Cys484=
XM_017027844.2:c.1516T=	XP_016883333.1:p.Cys506=
XM_017027845.1:c.481T=	XP_016883334.1:p.Cys161=
NM_004518.6:c.1489T=	NP_004509.2:p.Cys497=
NM_172106.3:c.1519T=	NP_742104.1:p.Cys507=
NM_172107.4:c.1573T= MANE Select	NP_742105.1:p.Cys525=
NM_172108.5:c.1480T=	NP_742106.1:p.Cys494=
NM_001382235.1:c.1519T=	NP_001369164.1:p.Cys507=