Canonical Allele Identifier: CA2374778342

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414195_63414196delinsTG , CM000682.2:g.63414195_63414196delinsTG	GRCh38
NC_000020.10:g.62045548_62045549delinsTG , CM000682.1:g.62045548_62045549delinsTG	GRCh37
NC_000020.9:g.61515992_61515993delinsTG	NCBI36
NG_009004.1:g.63445_63446delinsCA
NG_009004.2:g.63445_63446delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1472-3_1472-2delinsCA	ENSP00000516702.1:n.1472-3_1472-2delinsCA
ENST00000359125.7:c.1526-3_1526-2delinsCA MANE Select	ENSP00000352035.2:n.1526-3_1526-2delinsCA
ENST00000637193.1:c.923-3_923-2delinsCA	ENSP00000490734.1:n.923-3_923-2delinsCA
ENST00000344462.8:c.1436-6_1436-5delinsCA	ENSP00000339611.4:n.1436-6_1436-5delinsCA
ENST00000357249.6:c.1094-3_1094-2delinsCA	ENSP00000349789.3:n.1094-3_1094-2delinsCA
ENST00000359125.6:c.1526-3_1526-2delinsCA	ENSP00000352035.2:n.1526-3_1526-2delinsCA
ENST00000360480.7:c.1442-3_1442-2delinsCA	ENSP00000353668.3:n.1442-3_1442-2delinsCA
ENST00000370224.5:c.1442-3_1442-2delinsCA	ENSP00000359244.2:n.1442-3_1442-2delinsCA
ENST00000625514.2:c.1406-3_1406-2delinsCA	ENSP00000486040.1:n.1406-3_1406-2delinsCA
ENST00000626839.2:c.1472-3_1472-2delinsCA	ENSP00000486706.1:n.1472-3_1472-2delinsCA
ENST00000627221.2:c.586-6_586-5delinsCA
ENST00000629241.2:c.1442-3_1442-2delinsCA	ENSP00000487142.1:n.1442-3_1442-2delinsCA
ENST00000629318.1:c.134-3_134-2delinsCA	ENSP00000487384.1:n.134-3_134-2delinsCA
ENST00000629676.2:c.1442-3_1442-2delinsCA	ENSP00000486194.1:n.1442-3_1442-2delinsCA
NM_004518.4:c.1442-3_1442-2delinsCA	NP_004509.2:n.1442-3_1442-2delinsCA
NM_172106.1:c.1472-3_1472-2delinsCA	NP_742104.1:n.1472-3_1472-2delinsCA
NM_172107.2:c.1526-3_1526-2delinsCA	NP_742105.1:n.1526-3_1526-2delinsCA
NM_172108.3:c.1436-6_1436-5delinsCA	NP_742106.1:n.1436-6_1436-5delinsCA
XM_006723787.1:c.1526-3_1526-2delinsCA	XP_006723850.1:n.1526-3_1526-2delinsCA
XM_011528807.1:c.1526-3_1526-2delinsCA	XP_011527109.1:n.1526-3_1526-2delinsCA
XM_011528808.1:c.1526-6_1526-5delinsCA	XP_011527110.1:n.1526-6_1526-5delinsCA
XM_011528809.1:c.1496-3_1496-2delinsCA	XP_011527111.1:n.1496-3_1496-2delinsCA
XM_011528810.1:c.1472-3_1472-2delinsCA	XP_011527112.1:n.1472-3_1472-2delinsCA
XM_011528811.1:c.1442-3_1442-2delinsCA	XP_011527113.1:n.1442-3_1442-2delinsCA
XM_011528812.1:c.1526-6_1526-5delinsCA	XP_011527114.1:n.1526-6_1526-5delinsCA
XM_011528813.1:c.1400-3_1400-2delinsCA	XP_011527115.1:n.1400-3_1400-2delinsCA
XM_011528814.1:c.1007-3_1007-2delinsCA	XP_011527116.1:n.1007-3_1007-2delinsCA
XM_011528815.1:c.1526-3_1526-2delinsCA	XP_011527117.1:n.1526-3_1526-2delinsCA
NM_004518.5:c.1442-3_1442-2delinsCA	NP_004509.2:n.1442-3_1442-2delinsCA
NM_172106.2:c.1472-3_1472-2delinsCA	NP_742104.1:n.1472-3_1472-2delinsCA
NM_172107.3:c.1526-3_1526-2delinsCA	NP_742105.1:n.1526-3_1526-2delinsCA
NM_172108.4:c.1436-6_1436-5delinsCA	NP_742106.1:n.1436-6_1436-5delinsCA
XM_011528810.2:c.1472-3_1472-2delinsCA	XP_011527112.1:n.1472-3_1472-2delinsCA
XM_011528811.2:c.1442-3_1442-2delinsCA	XP_011527113.1:n.1442-3_1442-2delinsCA
XM_017027841.2:c.1472-6_1472-5delinsCA	XP_016883330.1:n.1472-6_1472-5delinsCA
XM_017027842.2:c.1472-3_1472-2delinsCA	XP_016883331.1:n.1472-3_1472-2delinsCA
XM_017027843.1:c.1403-3_1403-2delinsCA	XP_016883332.1:n.1403-3_1403-2delinsCA
XM_017027844.2:c.1472-6_1472-5delinsCA	XP_016883333.1:n.1472-6_1472-5delinsCA
XM_017027845.1:c.434-3_434-2delinsCA	XP_016883334.1:n.434-3_434-2delinsCA
NM_004518.6:c.1442-3_1442-2delinsCA	NP_004509.2:n.1442-3_1442-2delinsCA
NM_172106.3:c.1472-3_1472-2delinsCA	NP_742104.1:n.1472-3_1472-2delinsCA
NM_172107.4:c.1526-3_1526-2delinsCA MANE Select	NP_742105.1:n.1526-3_1526-2delinsCA
NM_172108.5:c.1436-6_1436-5delinsCA	NP_742106.1:n.1436-6_1436-5delinsCA
NM_001382235.1:c.1472-3_1472-2delinsCA	NP_001369164.1:n.1472-3_1472-2delinsCA