Canonical Allele Identifier: CA2374774436

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407136_63407148delinsAGGGGGCGCGGCC , CM000682.2:g.63407136_63407148delinsAGGGGGCGCGGCC	GRCh38
NC_000020.10:g.62038489_62038501delinsAGGGGGCGCGGCC , CM000682.1:g.62038489_62038501delinsAGGGGGCGCGGCC	GRCh37
NC_000020.9:g.61508933_61508945delinsAGGGGGCGCGGCC	NCBI36
NG_009004.1:g.70493_70505delinsGGCCGCGCCCCCT
NG_009004.2:g.70493_70505delinsGGCCGCGCCCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2169_2181delinsGGCCGCGCCCCCT	ENSP00000516702.1:p.Pro723=
ENST00000359125.7:c.2115_2127delinsGGCCGCGCCCCCT MANE Select	ENSP00000352035.2:p.Pro705=
ENST00000637193.1:c.1512_1524delinsGGCCGCGCCCCCT	ENSP00000490734.1:p.Pro504=
ENST00000344462.8:c.2022_2034delinsGGCCGCGCCCCCT	ENSP00000339611.4:p.Pro674=
ENST00000357249.6:c.1683_1695delinsGGCCGCGCCCCCT	ENSP00000349789.3:p.Pro561=
ENST00000359125.6:c.2115_2127delinsGGCCGCGCCCCCT	ENSP00000352035.2:p.Pro705=
ENST00000360480.7:c.2031_2043delinsGGCCGCGCCCCCT	ENSP00000353668.3:p.Pro677=
ENST00000370224.5:c.2139_2151delinsGGCCGCGCCCCCT	ENSP00000359244.2:p.Pro713=
ENST00000625514.2:c.2103_2115delinsGGCCGCGCCCCCT	ENSP00000486040.1:p.Pro701=
ENST00000626839.2:c.2061_2073delinsGGCCGCGCCCCCT	ENSP00000486706.1:p.Pro687=
ENST00000629241.2:c.2031_2043delinsGGCCGCGCCCCCT	ENSP00000487142.1:p.Pro677=
ENST00000629676.2:c.1679+6302_1680-6293delinsGGCCGCGCCCCCT	ENSP00000486194.1:n.1679+6302_1680-6293delinsGGCCGCGCCCCCT
NM_004518.4:c.2031_2043delinsGGCCGCGCCCCCT	NP_004509.2:p.Pro677=
NM_172106.1:c.2061_2073delinsGGCCGCGCCCCCT	NP_742104.1:p.Pro687=
NM_172107.2:c.2115_2127delinsGGCCGCGCCCCCT	NP_742105.1:p.Pro705=
NM_172108.3:c.2022_2034delinsGGCCGCGCCCCCT	NP_742106.1:p.Pro674=
XM_006723787.1:c.2157_2169delinsGGCCGCGCCCCCT	XP_006723850.1:p.Pro719=
XM_011528807.1:c.2223_2235delinsGGCCGCGCCCCCT	XP_011527109.1:p.Pro741=
XM_011528808.1:c.2220_2232delinsGGCCGCGCCCCCT	XP_011527110.1:p.Pro740=
XM_011528809.1:c.2193_2205delinsGGCCGCGCCCCCT	XP_011527111.1:p.Pro731=
XM_011528810.1:c.2169_2181delinsGGCCGCGCCCCCT	XP_011527112.1:p.Pro723=
XM_011528811.1:c.2139_2151delinsGGCCGCGCCCCCT	XP_011527113.1:p.Pro713=
XM_011528812.1:c.2112_2124delinsGGCCGCGCCCCCT	XP_011527114.1:p.Pro704=
XM_011528813.1:c.2097_2109delinsGGCCGCGCCCCCT	XP_011527115.1:p.Pro699=
XM_011528814.1:c.1704_1716delinsGGCCGCGCCCCCT	XP_011527116.1:p.Pro568=
NM_004518.5:c.2031_2043delinsGGCCGCGCCCCCT	NP_004509.2:p.Pro677=
NM_172106.2:c.2061_2073delinsGGCCGCGCCCCCT	NP_742104.1:p.Pro687=
NM_172107.3:c.2115_2127delinsGGCCGCGCCCCCT	NP_742105.1:p.Pro705=
NM_172108.4:c.2022_2034delinsGGCCGCGCCCCCT	NP_742106.1:p.Pro674=
XM_011528810.2:c.2169_2181delinsGGCCGCGCCCCCT	XP_011527112.1:p.Pro723=
XM_011528811.2:c.2139_2151delinsGGCCGCGCCCCCT	XP_011527113.1:p.Pro713=
XM_017027841.2:c.2166_2178delinsGGCCGCGCCCCCT	XP_016883330.1:p.Pro722=
XM_017027842.2:c.2103_2115delinsGGCCGCGCCCCCT	XP_016883331.1:p.Pro701=
XM_017027843.1:c.2100_2112delinsGGCCGCGCCCCCT	XP_016883332.1:p.Pro700=
XM_017027844.2:c.2058_2070delinsGGCCGCGCCCCCT	XP_016883333.1:p.Pro686=
XM_017027845.1:c.1131_1143delinsGGCCGCGCCCCCT	XP_016883334.1:p.Pro377=
NM_004518.6:c.2031_2043delinsGGCCGCGCCCCCT	NP_004509.2:p.Pro677=
NM_172106.3:c.2061_2073delinsGGCCGCGCCCCCT	NP_742104.1:p.Pro687=
NM_172107.4:c.2115_2127delinsGGCCGCGCCCCCT MANE Select	NP_742105.1:p.Pro705=
NM_172108.5:c.2022_2034delinsGGCCGCGCCCCCT	NP_742106.1:p.Pro674=
NM_001382235.1:c.2169_2181delinsGGCCGCGCCCCCT	NP_001369164.1:p.Pro723=