Canonical Allele Identifier: CA2695230036

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407233dup , CM000682.2:g.63407233dup	GRCh38
NC_000020.10:g.62038586dup , CM000682.1:g.62038586dup	GRCh37
NC_000020.9:g.61509030dup	NCBI36
NG_009004.1:g.70410dup
NG_009004.2:g.70410dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2086dup	ENSP00000516702.1:p.Glu696GlyfsTer?
ENST00000359125.7:c.2032dup MANE Select	ENSP00000352035.2:p.Glu678GlyfsTer?
ENST00000637193.1:c.1429dup	ENSP00000490734.1:p.Glu477GlyfsTer?
ENST00000344462.8:c.1939dup	ENSP00000339611.4:p.Glu647GlyfsTer?
ENST00000357249.6:c.1600dup	ENSP00000349789.3:p.Glu534GlyfsTer?
ENST00000359125.6:c.2032dup	ENSP00000352035.2:p.Glu678GlyfsTer?
ENST00000360480.7:c.1948dup	ENSP00000353668.3:p.Glu650GlyfsTer?
ENST00000370224.5:c.2056dup	ENSP00000359244.2:p.Glu686GlyfsTer?
ENST00000625514.2:c.2020dup	ENSP00000486040.1:p.Glu674GlyfsTer?
ENST00000626839.2:c.1978dup	ENSP00000486706.1:p.Glu660GlyfsTer?
ENST00000629241.2:c.1948dup	ENSP00000487142.1:p.Glu650GlyfsTer?
ENST00000629676.2:c.1679+6219dup	ENSP00000486194.1:n.1679+6219dup
NM_004518.4:c.1948dup	NP_004509.2:p.Glu650GlyfsTer?
NM_172106.1:c.1978dup	NP_742104.1:p.Glu660GlyfsTer?
NM_172107.2:c.2032dup	NP_742105.1:p.Glu678GlyfsTer?
NM_172108.3:c.1939dup	NP_742106.1:p.Glu647GlyfsTer?
XM_006723787.1:c.2074dup	XP_006723850.1:p.Glu692GlyfsTer?
XM_011528807.1:c.2140dup	XP_011527109.1:p.Glu714GlyfsTer?
XM_011528808.1:c.2137dup	XP_011527110.1:p.Glu713GlyfsTer?
XM_011528809.1:c.2110dup	XP_011527111.1:p.Glu704GlyfsTer?
XM_011528810.1:c.2086dup	XP_011527112.1:p.Glu696GlyfsTer?
XM_011528811.1:c.2056dup	XP_011527113.1:p.Glu686GlyfsTer?
XM_011528812.1:c.2029dup	XP_011527114.1:p.Glu677GlyfsTer?
XM_011528813.1:c.2014dup	XP_011527115.1:p.Glu672GlyfsTer?
XM_011528814.1:c.1621dup	XP_011527116.1:p.Glu541GlyfsTer?
NM_004518.5:c.1948dup	NP_004509.2:p.Glu650GlyfsTer?
NM_172106.2:c.1978dup	NP_742104.1:p.Glu660GlyfsTer?
NM_172107.3:c.2032dup	NP_742105.1:p.Glu678GlyfsTer?
NM_172108.4:c.1939dup	NP_742106.1:p.Glu647GlyfsTer?
XM_011528810.2:c.2086dup	XP_011527112.1:p.Glu696GlyfsTer?
XM_011528811.2:c.2056dup	XP_011527113.1:p.Glu686GlyfsTer?
XM_017027841.2:c.2083dup	XP_016883330.1:p.Glu695GlyfsTer?
XM_017027842.2:c.2020dup	XP_016883331.1:p.Glu674GlyfsTer?
XM_017027843.1:c.2017dup	XP_016883332.1:p.Glu673GlyfsTer?
XM_017027844.2:c.1975dup	XP_016883333.1:p.Glu659GlyfsTer?
XM_017027845.1:c.1048dup	XP_016883334.1:p.Glu350GlyfsTer?
NM_004518.6:c.1948dup	NP_004509.2:p.Glu650GlyfsTer?
NM_172106.3:c.1978dup	NP_742104.1:p.Glu660GlyfsTer?
NM_172107.4:c.2032dup MANE Select	NP_742105.1:p.Glu678GlyfsTer?
NM_172108.5:c.1939dup	NP_742106.1:p.Glu647GlyfsTer?
NM_001382235.1:c.2086dup	NP_001369164.1:p.Glu696GlyfsTer?