Canonical Allele Identifier: CA2374787113

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63431361_63431362delinsGT , CM000682.2:g.63431361_63431362delinsGT	GRCh38
NC_000020.10:g.62062714_62062715delinsGT , CM000682.1:g.62062714_62062715delinsGT	GRCh37
NC_000020.9:g.61533158_61533159delinsGT	NCBI36
NG_009004.1:g.46279_46280delinsAC
NG_009004.2:g.46279_46280delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1126_1127delinsAC	ENSP00000516702.1:p.Thr376=
ENST00000359125.7:c.1126_1127delinsAC MANE Select	ENSP00000352035.2:p.Thr376=
ENST00000636638.1:n.31+2084_31+2085delinsAC
ENST00000637193.1:c.599+2447_599+2448delinsAC	ENSP00000490734.1:n.599+2447_599+2448delinsAC
ENST00000344462.8:c.1126_1127delinsAC	ENSP00000339611.4:p.Thr376=
ENST00000357249.6:c.784_785delinsAC	ENSP00000349789.3:p.Thr262=
ENST00000359125.6:c.1126_1127delinsAC	ENSP00000352035.2:p.Thr376=
ENST00000360480.7:c.1118+2447_1118+2448delinsAC	ENSP00000353668.3:n.1118+2447_1118+2448delinsAC
ENST00000370221.3:n.1252_1253delinsAC
ENST00000370224.5:c.1118+2447_1118+2448delinsAC	ENSP00000359244.2:n.1118+2447_1118+2448delinsAC
ENST00000625514.2:c.1118+2447_1118+2448delinsAC	ENSP00000486040.1:n.1118+2447_1118+2448delinsAC
ENST00000626839.2:c.1126_1127delinsAC	ENSP00000486706.1:p.Thr376=
ENST00000627221.2:c.262+2447_262+2448delinsAC
ENST00000629241.2:c.1118+2447_1118+2448delinsAC	ENSP00000487142.1:n.1118+2447_1118+2448delinsAC
ENST00000629676.2:c.1118+2447_1118+2448delinsAC	ENSP00000486194.1:n.1118+2447_1118+2448delinsAC
NM_004518.4:c.1118+2447_1118+2448delinsAC	NP_004509.2:n.1118+2447_1118+2448delinsAC
NM_172106.1:c.1126_1127delinsAC	NP_742104.1:p.Thr376=
NM_172107.2:c.1126_1127delinsAC	NP_742105.1:p.Thr376=
NM_172108.3:c.1126_1127delinsAC	NP_742106.1:p.Thr376=
XM_006723787.1:c.1126_1127delinsAC	XP_006723850.1:p.Thr376=
XM_011528807.1:c.1126_1127delinsAC	XP_011527109.1:p.Thr376=
XM_011528808.1:c.1126_1127delinsAC	XP_011527110.1:p.Thr376=
XM_011528809.1:c.1118+2447_1118+2448delinsAC	XP_011527111.1:n.1118+2447_1118+2448delinsAC
XM_011528810.1:c.1126_1127delinsAC	XP_011527112.1:p.Thr376=
XM_011528811.1:c.1118+2447_1118+2448delinsAC	XP_011527113.1:n.1118+2447_1118+2448delinsAC
XM_011528812.1:c.1126_1127delinsAC	XP_011527114.1:p.Thr376=
XM_011528813.1:c.1000_1001delinsAC	XP_011527115.1:p.Thr334=
XM_011528814.1:c.607_608delinsAC	XP_011527116.1:p.Thr203=
XM_011528815.1:c.1126_1127delinsAC	XP_011527117.1:p.Thr376=
NM_004518.5:c.1118+2447_1118+2448delinsAC	NP_004509.2:n.1118+2447_1118+2448delinsAC
NM_172106.2:c.1126_1127delinsAC	NP_742104.1:p.Thr376=
NM_172107.3:c.1126_1127delinsAC	NP_742105.1:p.Thr376=
NM_172108.4:c.1126_1127delinsAC	NP_742106.1:p.Thr376=
XM_011528810.2:c.1126_1127delinsAC	XP_011527112.1:p.Thr376=
XM_011528811.2:c.1118+2447_1118+2448delinsAC	XP_011527113.1:n.1118+2447_1118+2448delinsAC
XM_017027841.2:c.1126_1127delinsAC	XP_016883330.1:p.Thr376=
XM_017027842.2:c.1126_1127delinsAC	XP_016883331.1:p.Thr376=
XM_017027843.1:c.1057_1058delinsAC	XP_016883332.1:p.Thr353=
XM_017027844.2:c.1126_1127delinsAC	XP_016883333.1:p.Thr376=
NM_004518.6:c.1118+2447_1118+2448delinsAC	NP_004509.2:n.1118+2447_1118+2448delinsAC
NM_172106.3:c.1126_1127delinsAC	NP_742104.1:p.Thr376=
NM_172107.4:c.1126_1127delinsAC MANE Select	NP_742105.1:p.Thr376=
NM_172108.5:c.1126_1127delinsAC	NP_742106.1:p.Thr376=
NM_001382235.1:c.1126_1127delinsAC	NP_001369164.1:p.Thr376=