Canonical Allele Identifier: CA2374788813

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63433703_63433707delinsGAAAA , CM000682.2:g.63433703_63433707delinsGAAAA	GRCh38
NC_000020.10:g.62065056_62065060delinsGAAAA , CM000682.1:g.62065056_62065060delinsGAAAA	GRCh37
NC_000020.9:g.61535500_61535504delinsGAAAA	NCBI36
NG_009004.1:g.43934_43938delinsTTTTC
NG_009004.2:g.43934_43938delinsTTTTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1118+102_1118+106delinsTTTTC	ENSP00000516702.1:n.1118+102_1118+106delinsTTTTC
ENST00000344425.8:c.*38_*42delinsTTTTC	ENSP00000345523.5:n.*38_*42delinsTTTTC
ENST00000359125.7:c.1118+102_1118+106delinsTTTTC MANE Select	ENSP00000352035.2:n.1118+102_1118+106delinsTTTTC
ENST00000635864.1:n.34-28_34-24delinsTTTTC
ENST00000636255.1:n.958_962delinsTTTTC
ENST00000637193.1:c.599+102_599+106delinsTTTTC	ENSP00000490734.1:n.599+102_599+106delinsTTTTC
ENST00000637890.1:n.68+102_68+106delinsTTTTC
ENST00000344425.7:c.*38_*42delinsTTTTC	ENSP00000345523.5:n.*38_*42delinsTTTTC
ENST00000344462.8:c.1118+102_1118+106delinsTTTTC	ENSP00000339611.4:n.1118+102_1118+106delinsTTTTC
ENST00000357249.6:c.776+102_776+106delinsTTTTC	ENSP00000349789.3:n.776+102_776+106delinsTTTTC
ENST00000359125.6:c.1118+102_1118+106delinsTTTTC	ENSP00000352035.2:n.1118+102_1118+106delinsTTTTC
ENST00000360480.7:c.1118+102_1118+106delinsTTTTC	ENSP00000353668.3:n.1118+102_1118+106delinsTTTTC
ENST00000370221.3:n.1244+102_1244+106delinsTTTTC
ENST00000370224.5:c.1118+102_1118+106delinsTTTTC	ENSP00000359244.2:n.1118+102_1118+106delinsTTTTC
ENST00000482957.1:n.571_575delinsTTTTC
ENST00000625514.2:c.1118+102_1118+106delinsTTTTC	ENSP00000486040.1:n.1118+102_1118+106delinsTTTTC
ENST00000626839.2:c.1118+102_1118+106delinsTTTTC	ENSP00000486706.1:n.1118+102_1118+106delinsTTTTC
ENST00000627221.2:c.262+102_262+106delinsTTTTC
ENST00000629241.2:c.1118+102_1118+106delinsTTTTC	ENSP00000487142.1:n.1118+102_1118+106delinsTTTTC
ENST00000629498.2:c.693_697delinsTTTTC	ENSP00000486509.1:n.693_697delinsTTTTC
ENST00000629676.2:c.1118+102_1118+106delinsTTTTC	ENSP00000486194.1:n.1118+102_1118+106delinsTTTTC
NM_004518.4:c.1118+102_1118+106delinsTTTTC	NP_004509.2:n.1118+102_1118+106delinsTTTTC
NM_172106.1:c.1118+102_1118+106delinsTTTTC	NP_742104.1:n.1118+102_1118+106delinsTTTTC
NM_172107.2:c.1118+102_1118+106delinsTTTTC	NP_742105.1:n.1118+102_1118+106delinsTTTTC
NM_172108.3:c.1118+102_1118+106delinsTTTTC	NP_742106.1:n.1118+102_1118+106delinsTTTTC
NM_172109.1:c.*38_*42delinsTTTTC	NP_742107.1:n.*38_*42delinsTTTTC
XM_006723787.1:c.1118+102_1118+106delinsTTTTC	XP_006723850.1:n.1118+102_1118+106delinsTTTTC
XM_011528807.1:c.1118+102_1118+106delinsTTTTC	XP_011527109.1:n.1118+102_1118+106delinsTTTTC
XM_011528808.1:c.1118+102_1118+106delinsTTTTC	XP_011527110.1:n.1118+102_1118+106delinsTTTTC
XM_011528809.1:c.1118+102_1118+106delinsTTTTC	XP_011527111.1:n.1118+102_1118+106delinsTTTTC
XM_011528810.1:c.1118+102_1118+106delinsTTTTC	XP_011527112.1:n.1118+102_1118+106delinsTTTTC
XM_011528811.1:c.1118+102_1118+106delinsTTTTC	XP_011527113.1:n.1118+102_1118+106delinsTTTTC
XM_011528812.1:c.1118+102_1118+106delinsTTTTC	XP_011527114.1:n.1118+102_1118+106delinsTTTTC
XM_011528813.1:c.992+102_992+106delinsTTTTC	XP_011527115.1:n.992+102_992+106delinsTTTTC
XM_011528814.1:c.599+102_599+106delinsTTTTC	XP_011527116.1:n.599+102_599+106delinsTTTTC
XM_011528815.1:c.1118+102_1118+106delinsTTTTC	XP_011527117.1:n.1118+102_1118+106delinsTTTTC
NM_004518.5:c.1118+102_1118+106delinsTTTTC	NP_004509.2:n.1118+102_1118+106delinsTTTTC
NM_172106.2:c.1118+102_1118+106delinsTTTTC	NP_742104.1:n.1118+102_1118+106delinsTTTTC
NM_172107.3:c.1118+102_1118+106delinsTTTTC	NP_742105.1:n.1118+102_1118+106delinsTTTTC
NM_172108.4:c.1118+102_1118+106delinsTTTTC	NP_742106.1:n.1118+102_1118+106delinsTTTTC
NM_172109.2:c.*38_*42delinsTTTTC	NP_742107.1:n.*38_*42delinsTTTTC
XM_011528810.2:c.1118+102_1118+106delinsTTTTC	XP_011527112.1:n.1118+102_1118+106delinsTTTTC
XM_011528811.2:c.1118+102_1118+106delinsTTTTC	XP_011527113.1:n.1118+102_1118+106delinsTTTTC
XM_017027841.2:c.1118+102_1118+106delinsTTTTC	XP_016883330.1:n.1118+102_1118+106delinsTTTTC
XM_017027842.2:c.1118+102_1118+106delinsTTTTC	XP_016883331.1:n.1118+102_1118+106delinsTTTTC
XM_017027843.1:c.1049+102_1049+106delinsTTTTC	XP_016883332.1:n.1049+102_1049+106delinsTTTTC
XM_017027844.2:c.1118+102_1118+106delinsTTTTC	XP_016883333.1:n.1118+102_1118+106delinsTTTTC
NM_004518.6:c.1118+102_1118+106delinsTTTTC	NP_004509.2:n.1118+102_1118+106delinsTTTTC
NM_172106.3:c.1118+102_1118+106delinsTTTTC	NP_742104.1:n.1118+102_1118+106delinsTTTTC
NM_172107.4:c.1118+102_1118+106delinsTTTTC MANE Select	NP_742105.1:n.1118+102_1118+106delinsTTTTC
NM_172108.5:c.1118+102_1118+106delinsTTTTC	NP_742106.1:n.1118+102_1118+106delinsTTTTC
NM_172109.3:c.*38_*42delinsTTTTC	NP_742107.1:n.*38_*42delinsTTTTC
NM_001382235.1:c.1118+102_1118+106delinsTTTTC	NP_001369164.1:n.1118+102_1118+106delinsTTTTC