Canonical Allele Identifier: CA2374774565

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407354_63407357delinsGCTT , CM000682.2:g.63407354_63407357delinsGCTT	GRCh38
NC_000020.10:g.62038707_62038710delinsGCTT , CM000682.1:g.62038707_62038710delinsGCTT	GRCh37
NC_000020.9:g.61509151_61509154delinsGCTT	NCBI36
NG_009004.1:g.70284_70287delinsAAGC
NG_009004.2:g.70284_70287delinsAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1960_1963delinsAAGC	ENSP00000516702.1:p.Lys654=
ENST00000359125.7:c.1906_1909delinsAAGC MANE Select	ENSP00000352035.2:p.Lys636=
ENST00000637193.1:c.1303_1306delinsAAGC	ENSP00000490734.1:p.Lys435=
ENST00000637338.1:n.63_66delinsAAGC
ENST00000344462.8:c.1813_1816delinsAAGC	ENSP00000339611.4:p.Lys605=
ENST00000357249.6:c.1474_1477delinsAAGC	ENSP00000349789.3:p.Lys492=
ENST00000359125.6:c.1906_1909delinsAAGC	ENSP00000352035.2:p.Lys636=
ENST00000360480.7:c.1822_1825delinsAAGC	ENSP00000353668.3:p.Lys608=
ENST00000370224.5:c.1930_1933delinsAAGC	ENSP00000359244.2:p.Lys644=
ENST00000625514.2:c.1894_1897delinsAAGC	ENSP00000486040.1:p.Lys632=
ENST00000626839.2:c.1852_1855delinsAAGC	ENSP00000486706.1:p.Lys618=
ENST00000629241.2:c.1822_1825delinsAAGC	ENSP00000487142.1:p.Lys608=
ENST00000629676.2:c.1679+6093_1679+6096delinsAAGC	ENSP00000486194.1:n.1679+6093_1679+6096delinsAAGC
NM_004518.4:c.1822_1825delinsAAGC	NP_004509.2:p.Lys608=
NM_172106.1:c.1852_1855delinsAAGC	NP_742104.1:p.Lys618=
NM_172107.2:c.1906_1909delinsAAGC	NP_742105.1:p.Lys636=
NM_172108.3:c.1813_1816delinsAAGC	NP_742106.1:p.Lys605=
XM_006723787.1:c.1948_1951delinsAAGC	XP_006723850.1:p.Lys650=
XM_011528807.1:c.2014_2017delinsAAGC	XP_011527109.1:p.Lys672=
XM_011528808.1:c.2011_2014delinsAAGC	XP_011527110.1:p.Lys671=
XM_011528809.1:c.1984_1987delinsAAGC	XP_011527111.1:p.Lys662=
XM_011528810.1:c.1960_1963delinsAAGC	XP_011527112.1:p.Lys654=
XM_011528811.1:c.1930_1933delinsAAGC	XP_011527113.1:p.Lys644=
XM_011528812.1:c.1903_1906delinsAAGC	XP_011527114.1:p.Lys635=
XM_011528813.1:c.1888_1891delinsAAGC	XP_011527115.1:p.Lys630=
XM_011528814.1:c.1495_1498delinsAAGC	XP_011527116.1:p.Lys499=
NM_004518.5:c.1822_1825delinsAAGC	NP_004509.2:p.Lys608=
NM_172106.2:c.1852_1855delinsAAGC	NP_742104.1:p.Lys618=
NM_172107.3:c.1906_1909delinsAAGC	NP_742105.1:p.Lys636=
NM_172108.4:c.1813_1816delinsAAGC	NP_742106.1:p.Lys605=
XM_011528810.2:c.1960_1963delinsAAGC	XP_011527112.1:p.Lys654=
XM_011528811.2:c.1930_1933delinsAAGC	XP_011527113.1:p.Lys644=
XM_017027841.2:c.1957_1960delinsAAGC	XP_016883330.1:p.Lys653=
XM_017027842.2:c.1894_1897delinsAAGC	XP_016883331.1:p.Lys632=
XM_017027843.1:c.1891_1894delinsAAGC	XP_016883332.1:p.Lys631=
XM_017027844.2:c.1849_1852delinsAAGC	XP_016883333.1:p.Lys617=
XM_017027845.1:c.922_925delinsAAGC	XP_016883334.1:p.Lys308=
NM_004518.6:c.1822_1825delinsAAGC	NP_004509.2:p.Lys608=
NM_172106.3:c.1852_1855delinsAAGC	NP_742104.1:p.Lys618=
NM_172107.4:c.1906_1909delinsAAGC MANE Select	NP_742105.1:p.Lys636=
NM_172108.5:c.1813_1816delinsAAGC	NP_742106.1:p.Lys605=
NM_001382235.1:c.1960_1963delinsAAGC	NP_001369164.1:p.Lys654=