Canonical Allele Identifier: CA2816991357

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63431414_63431415insG , CM000682.2:g.63431414_63431415insG	GRCh38
NC_000020.10:g.62062767_62062768insG , CM000682.1:g.62062767_62062768insG	GRCh37
NC_000020.9:g.61533211_61533212insG	NCBI36
NG_009004.1:g.46226_46227insC
NG_009004.2:g.46226_46227insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1119-46_1119-45insC	ENSP00000516702.1:n.1119-46_1119-45insC
ENST00000359125.7:c.1119-46_1119-45insC MANE Select	ENSP00000352035.2:n.1119-46_1119-45insC
ENST00000636638.1:n.31+2031_31+2032insC
ENST00000637193.1:c.599+2394_599+2395insC	ENSP00000490734.1:n.599+2394_599+2395insC
ENST00000344462.8:c.1119-46_1119-45insC	ENSP00000339611.4:n.1119-46_1119-45insC
ENST00000357249.6:c.777-46_777-45insC	ENSP00000349789.3:n.777-46_777-45insC
ENST00000359125.6:c.1119-46_1119-45insC	ENSP00000352035.2:n.1119-46_1119-45insC
ENST00000360480.7:c.1118+2394_1118+2395insC	ENSP00000353668.3:n.1118+2394_1118+2395insC
ENST00000370221.3:n.1245-46_1245-45insC
ENST00000370224.5:c.1118+2394_1118+2395insC	ENSP00000359244.2:n.1118+2394_1118+2395insC
ENST00000625514.2:c.1118+2394_1118+2395insC	ENSP00000486040.1:n.1118+2394_1118+2395insC
ENST00000626839.2:c.1119-46_1119-45insC	ENSP00000486706.1:n.1119-46_1119-45insC
ENST00000627221.2:c.262+2394_262+2395insC
ENST00000629241.2:c.1118+2394_1118+2395insC	ENSP00000487142.1:n.1118+2394_1118+2395insC
ENST00000629676.2:c.1118+2394_1118+2395insC	ENSP00000486194.1:n.1118+2394_1118+2395insC
NM_004518.4:c.1118+2394_1118+2395insC	NP_004509.2:n.1118+2394_1118+2395insC
NM_172106.1:c.1119-46_1119-45insC	NP_742104.1:n.1119-46_1119-45insC
NM_172107.2:c.1119-46_1119-45insC	NP_742105.1:n.1119-46_1119-45insC
NM_172108.3:c.1119-46_1119-45insC	NP_742106.1:n.1119-46_1119-45insC
XM_006723787.1:c.1119-46_1119-45insC	XP_006723850.1:n.1119-46_1119-45insC
XM_011528807.1:c.1119-46_1119-45insC	XP_011527109.1:n.1119-46_1119-45insC
XM_011528808.1:c.1119-46_1119-45insC	XP_011527110.1:n.1119-46_1119-45insC
XM_011528809.1:c.1118+2394_1118+2395insC	XP_011527111.1:n.1118+2394_1118+2395insC
XM_011528810.1:c.1119-46_1119-45insC	XP_011527112.1:n.1119-46_1119-45insC
XM_011528811.1:c.1118+2394_1118+2395insC	XP_011527113.1:n.1118+2394_1118+2395insC
XM_011528812.1:c.1119-46_1119-45insC	XP_011527114.1:n.1119-46_1119-45insC
XM_011528813.1:c.993-46_993-45insC	XP_011527115.1:n.993-46_993-45insC
XM_011528814.1:c.600-46_600-45insC	XP_011527116.1:n.600-46_600-45insC
XM_011528815.1:c.1119-46_1119-45insC	XP_011527117.1:n.1119-46_1119-45insC
NM_004518.5:c.1118+2394_1118+2395insC	NP_004509.2:n.1118+2394_1118+2395insC
NM_172106.2:c.1119-46_1119-45insC	NP_742104.1:n.1119-46_1119-45insC
NM_172107.3:c.1119-46_1119-45insC	NP_742105.1:n.1119-46_1119-45insC
NM_172108.4:c.1119-46_1119-45insC	NP_742106.1:n.1119-46_1119-45insC
XM_011528810.2:c.1119-46_1119-45insC	XP_011527112.1:n.1119-46_1119-45insC
XM_011528811.2:c.1118+2394_1118+2395insC	XP_011527113.1:n.1118+2394_1118+2395insC
XM_017027841.2:c.1119-46_1119-45insC	XP_016883330.1:n.1119-46_1119-45insC
XM_017027842.2:c.1119-46_1119-45insC	XP_016883331.1:n.1119-46_1119-45insC
XM_017027843.1:c.1050-46_1050-45insC	XP_016883332.1:n.1050-46_1050-45insC
XM_017027844.2:c.1119-46_1119-45insC	XP_016883333.1:n.1119-46_1119-45insC
NM_004518.6:c.1118+2394_1118+2395insC	NP_004509.2:n.1118+2394_1118+2395insC
NM_172106.3:c.1119-46_1119-45insC	NP_742104.1:n.1119-46_1119-45insC
NM_172107.4:c.1119-46_1119-45insC MANE Select	NP_742105.1:n.1119-46_1119-45insC
NM_172108.5:c.1119-46_1119-45insC	NP_742106.1:n.1119-46_1119-45insC
NM_001382235.1:c.1119-46_1119-45insC	NP_001369164.1:n.1119-46_1119-45insC