Canonical Allele Identifier: CA2374774459

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407163_63407166delinsGTTC , CM000682.2:g.63407163_63407166delinsGTTC	GRCh38
NC_000020.10:g.62038516_62038519delinsGTTC , CM000682.1:g.62038516_62038519delinsGTTC	GRCh37
NC_000020.9:g.61508960_61508963delinsGTTC	NCBI36
NG_009004.1:g.70475_70478delinsGAAC
NG_009004.2:g.70475_70478delinsGAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2151_2154delinsGAAC	ENSP00000516702.1:p.Lys717=
ENST00000359125.7:c.2097_2100delinsGAAC MANE Select	ENSP00000352035.2:p.Lys699=
ENST00000637193.1:c.1494_1497delinsGAAC	ENSP00000490734.1:p.Lys498=
ENST00000344462.8:c.2004_2007delinsGAAC	ENSP00000339611.4:p.Lys668=
ENST00000357249.6:c.1665_1668delinsGAAC	ENSP00000349789.3:p.Lys555=
ENST00000359125.6:c.2097_2100delinsGAAC	ENSP00000352035.2:p.Lys699=
ENST00000360480.7:c.2013_2016delinsGAAC	ENSP00000353668.3:p.Lys671=
ENST00000370224.5:c.2121_2124delinsGAAC	ENSP00000359244.2:p.Lys707=
ENST00000625514.2:c.2085_2088delinsGAAC	ENSP00000486040.1:p.Lys695=
ENST00000626839.2:c.2043_2046delinsGAAC	ENSP00000486706.1:p.Lys681=
ENST00000629241.2:c.2013_2016delinsGAAC	ENSP00000487142.1:p.Lys671=
ENST00000629676.2:c.1679+6284_1679+6287delinsGAAC	ENSP00000486194.1:n.1679+6284_1679+6287delinsGAAC
NM_004518.4:c.2013_2016delinsGAAC	NP_004509.2:p.Lys671=
NM_172106.1:c.2043_2046delinsGAAC	NP_742104.1:p.Lys681=
NM_172107.2:c.2097_2100delinsGAAC	NP_742105.1:p.Lys699=
NM_172108.3:c.2004_2007delinsGAAC	NP_742106.1:p.Lys668=
XM_006723787.1:c.2139_2142delinsGAAC	XP_006723850.1:p.Lys713=
XM_011528807.1:c.2205_2208delinsGAAC	XP_011527109.1:p.Lys735=
XM_011528808.1:c.2202_2205delinsGAAC	XP_011527110.1:p.Lys734=
XM_011528809.1:c.2175_2178delinsGAAC	XP_011527111.1:p.Lys725=
XM_011528810.1:c.2151_2154delinsGAAC	XP_011527112.1:p.Lys717=
XM_011528811.1:c.2121_2124delinsGAAC	XP_011527113.1:p.Lys707=
XM_011528812.1:c.2094_2097delinsGAAC	XP_011527114.1:p.Lys698=
XM_011528813.1:c.2079_2082delinsGAAC	XP_011527115.1:p.Lys693=
XM_011528814.1:c.1686_1689delinsGAAC	XP_011527116.1:p.Lys562=
NM_004518.5:c.2013_2016delinsGAAC	NP_004509.2:p.Lys671=
NM_172106.2:c.2043_2046delinsGAAC	NP_742104.1:p.Lys681=
NM_172107.3:c.2097_2100delinsGAAC	NP_742105.1:p.Lys699=
NM_172108.4:c.2004_2007delinsGAAC	NP_742106.1:p.Lys668=
XM_011528810.2:c.2151_2154delinsGAAC	XP_011527112.1:p.Lys717=
XM_011528811.2:c.2121_2124delinsGAAC	XP_011527113.1:p.Lys707=
XM_017027841.2:c.2148_2151delinsGAAC	XP_016883330.1:p.Lys716=
XM_017027842.2:c.2085_2088delinsGAAC	XP_016883331.1:p.Lys695=
XM_017027843.1:c.2082_2085delinsGAAC	XP_016883332.1:p.Lys694=
XM_017027844.2:c.2040_2043delinsGAAC	XP_016883333.1:p.Lys680=
XM_017027845.1:c.1113_1116delinsGAAC	XP_016883334.1:p.Lys371=
NM_004518.6:c.2013_2016delinsGAAC	NP_004509.2:p.Lys671=
NM_172106.3:c.2043_2046delinsGAAC	NP_742104.1:p.Lys681=
NM_172107.4:c.2097_2100delinsGAAC MANE Select	NP_742105.1:p.Lys699=
NM_172108.5:c.2004_2007delinsGAAC	NP_742106.1:p.Lys668=
NM_001382235.1:c.2151_2154delinsGAAC	NP_001369164.1:p.Lys717=