Canonical Allele Identifier: CA2374774537

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407304T= , CM000682.2:g.63407304T=	GRCh38
NC_000020.10:g.62038657T= , CM000682.1:g.62038657T=	GRCh37
NC_000020.9:g.61509101T=	NCBI36
NG_009004.1:g.70337A=
NG_009004.2:g.70337A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2013A=	ENSP00000516702.1:p.Thr671=
ENST00000359125.7:c.1959A= MANE Select	ENSP00000352035.2:p.Thr653=
ENST00000637193.1:c.1356A=	ENSP00000490734.1:p.Thr452=
ENST00000344462.8:c.1866A=	ENSP00000339611.4:p.Thr622=
ENST00000357249.6:c.1527A=	ENSP00000349789.3:p.Thr509=
ENST00000359125.6:c.1959A=	ENSP00000352035.2:p.Thr653=
ENST00000360480.7:c.1875A=	ENSP00000353668.3:p.Thr625=
ENST00000370224.5:c.1983A=	ENSP00000359244.2:p.Thr661=
ENST00000625514.2:c.1947A=	ENSP00000486040.1:p.Thr649=
ENST00000626839.2:c.1905A=	ENSP00000486706.1:p.Thr635=
ENST00000629241.2:c.1875A=	ENSP00000487142.1:p.Thr625=
ENST00000629676.2:c.1679+6146A=	ENSP00000486194.1:n.1679+6146A=
NM_004518.4:c.1875A=	NP_004509.2:p.Thr625=
NM_172106.1:c.1905A=	NP_742104.1:p.Thr635=
NM_172107.2:c.1959A=	NP_742105.1:p.Thr653=
NM_172108.3:c.1866A=	NP_742106.1:p.Thr622=
XM_006723787.1:c.2001A=	XP_006723850.1:p.Thr667=
XM_011528807.1:c.2067A=	XP_011527109.1:p.Thr689=
XM_011528808.1:c.2064A=	XP_011527110.1:p.Thr688=
XM_011528809.1:c.2037A=	XP_011527111.1:p.Thr679=
XM_011528810.1:c.2013A=	XP_011527112.1:p.Thr671=
XM_011528811.1:c.1983A=	XP_011527113.1:p.Thr661=
XM_011528812.1:c.1956A=	XP_011527114.1:p.Thr652=
XM_011528813.1:c.1941A=	XP_011527115.1:p.Thr647=
XM_011528814.1:c.1548A=	XP_011527116.1:p.Thr516=
NM_004518.5:c.1875A=	NP_004509.2:p.Thr625=
NM_172106.2:c.1905A=	NP_742104.1:p.Thr635=
NM_172107.3:c.1959A=	NP_742105.1:p.Thr653=
NM_172108.4:c.1866A=	NP_742106.1:p.Thr622=
XM_011528810.2:c.2013A=	XP_011527112.1:p.Thr671=
XM_011528811.2:c.1983A=	XP_011527113.1:p.Thr661=
XM_017027841.2:c.2010A=	XP_016883330.1:p.Thr670=
XM_017027842.2:c.1947A=	XP_016883331.1:p.Thr649=
XM_017027843.1:c.1944A=	XP_016883332.1:p.Thr648=
XM_017027844.2:c.1902A=	XP_016883333.1:p.Thr634=
XM_017027845.1:c.975A=	XP_016883334.1:p.Thr325=
NM_004518.6:c.1875A=	NP_004509.2:p.Thr625=
NM_172106.3:c.1905A=	NP_742104.1:p.Thr635=
NM_172107.4:c.1959A= MANE Select	NP_742105.1:p.Thr653=
NM_172108.5:c.1866A=	NP_742106.1:p.Thr622=
NM_001382235.1:c.2013A=	NP_001369164.1:p.Thr671=