Canonical Allele Identifier: CA2842871698

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406693dup , CM000682.2:g.63406693dup	GRCh38
NC_000020.10:g.62038046dup , CM000682.1:g.62038046dup	GRCh37
NC_000020.9:g.61508490dup	NCBI36
NG_009004.1:g.70949dup
NG_009004.2:g.70949dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2625dup	ENSP00000516702.1:p.Gly876ArgfsTer7
ENST00000359125.7:c.2571dup MANE Select	ENSP00000352035.2:p.Gly858ArgfsTer7
ENST00000637193.1:c.1968dup	ENSP00000490734.1:p.Gly657ArgfsTer7
ENST00000344462.8:c.2478dup	ENSP00000339611.4:p.Gly827ArgfsTer7
ENST00000357249.6:c.2139dup	ENSP00000349789.3:p.Gly714ArgfsTer7
ENST00000359125.6:c.2571dup	ENSP00000352035.2:p.Gly858ArgfsTer7
ENST00000360480.7:c.2487dup	ENSP00000353668.3:p.Gly830ArgfsTer7
ENST00000370224.5:c.2241+354dup	ENSP00000359244.2:n.2241+354dup
ENST00000625514.2:c.2205+354dup	ENSP00000486040.1:n.2205+354dup
ENST00000626839.2:c.2517dup	ENSP00000486706.1:p.Gly840ArgfsTer7
ENST00000629241.2:c.2133+354dup	ENSP00000487142.1:n.2133+354dup
ENST00000629676.2:c.1680-5849dup	ENSP00000486194.1:n.1680-5849dup
NM_004518.4:c.2487dup	NP_004509.2:p.Gly830ArgfsTer7
NM_172106.1:c.2517dup	NP_742104.1:p.Gly840ArgfsTer7
NM_172107.2:c.2571dup	NP_742105.1:p.Gly858ArgfsTer7
NM_172108.3:c.2478dup	NP_742106.1:p.Gly827ArgfsTer7
XM_006723787.1:c.2613dup	XP_006723850.1:p.Gly872ArgfsTer7
XM_011528807.1:c.2679dup	XP_011527109.1:p.Gly894ArgfsTer7
XM_011528808.1:c.2676dup	XP_011527110.1:p.Gly893ArgfsTer7
XM_011528809.1:c.2649dup	XP_011527111.1:p.Gly884ArgfsTer7
XM_011528810.1:c.2625dup	XP_011527112.1:p.Gly876ArgfsTer7
XM_011528811.1:c.2595dup	XP_011527113.1:p.Gly866ArgfsTer7
XM_011528812.1:c.2568dup	XP_011527114.1:p.Gly857ArgfsTer7
XM_011528813.1:c.2553dup	XP_011527115.1:p.Gly852ArgfsTer7
XM_011528814.1:c.2160dup	XP_011527116.1:p.Gly721ArgfsTer7
NM_004518.5:c.2487dup	NP_004509.2:p.Gly830ArgfsTer7
NM_172106.2:c.2517dup	NP_742104.1:p.Gly840ArgfsTer7
NM_172107.3:c.2571dup	NP_742105.1:p.Gly858ArgfsTer7
NM_172108.4:c.2478dup	NP_742106.1:p.Gly827ArgfsTer7
XM_011528810.2:c.2625dup	XP_011527112.1:p.Gly876ArgfsTer7
XM_011528811.2:c.2595dup	XP_011527113.1:p.Gly866ArgfsTer7
XM_017027841.2:c.2622dup	XP_016883330.1:p.Gly875ArgfsTer7
XM_017027842.2:c.2559dup	XP_016883331.1:p.Gly854ArgfsTer7
XM_017027843.1:c.2556dup	XP_016883332.1:p.Gly853ArgfsTer7
XM_017027844.2:c.2514dup	XP_016883333.1:p.Gly839ArgfsTer7
XM_017027845.1:c.1587dup	XP_016883334.1:p.Gly530ArgfsTer7
NM_004518.6:c.2487dup	NP_004509.2:p.Gly830ArgfsTer7
NM_172106.3:c.2517dup	NP_742104.1:p.Gly840ArgfsTer7
NM_172107.4:c.2571dup MANE Select	NP_742105.1:p.Gly858ArgfsTer7
NM_172108.5:c.2478dup	NP_742106.1:p.Gly827ArgfsTer7
NM_001382235.1:c.2625dup	NP_001369164.1:p.Gly876ArgfsTer7