Canonical Allele Identifier: CA2374778750

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414895_63414896delinsAC , CM000682.2:g.63414895_63414896delinsAC	GRCh38
NC_000020.10:g.62046248_62046249delinsAC , CM000682.1:g.62046248_62046249delinsAC	GRCh37
NC_000020.9:g.61516692_61516693delinsAC	NCBI36
NG_009004.1:g.62745_62746delinsGT
NG_009004.2:g.62745_62746delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1471+7_1471+8delinsGT	ENSP00000516702.1:n.1471+7_1471+8delinsGT
ENST00000359125.7:c.1525+7_1525+8delinsGT MANE Select	ENSP00000352035.2:n.1525+7_1525+8delinsGT
ENST00000637193.1:c.922+7_922+8delinsGT	ENSP00000490734.1:n.922+7_922+8delinsGT
ENST00000344462.8:c.1435+7_1435+8delinsGT	ENSP00000339611.4:n.1435+7_1435+8delinsGT
ENST00000357249.6:c.1093+7_1093+8delinsGT	ENSP00000349789.3:n.1093+7_1093+8delinsGT
ENST00000359125.6:c.1525+7_1525+8delinsGT	ENSP00000352035.2:n.1525+7_1525+8delinsGT
ENST00000360480.7:c.1441+7_1441+8delinsGT	ENSP00000353668.3:n.1441+7_1441+8delinsGT
ENST00000370224.5:c.1441+7_1441+8delinsGT	ENSP00000359244.2:n.1441+7_1441+8delinsGT
ENST00000625514.2:c.1405+7_1405+8delinsGT	ENSP00000486040.1:n.1405+7_1405+8delinsGT
ENST00000626839.2:c.1471+7_1471+8delinsGT	ENSP00000486706.1:n.1471+7_1471+8delinsGT
ENST00000627221.2:c.585+7_585+8delinsGT
ENST00000629241.2:c.1441+7_1441+8delinsGT	ENSP00000487142.1:n.1441+7_1441+8delinsGT
ENST00000629318.1:c.133+7_133+8delinsGT	ENSP00000487384.1:n.133+7_133+8delinsGT
ENST00000629676.2:c.1441+7_1441+8delinsGT	ENSP00000486194.1:n.1441+7_1441+8delinsGT
NM_004518.4:c.1441+7_1441+8delinsGT	NP_004509.2:n.1441+7_1441+8delinsGT
NM_172106.1:c.1471+7_1471+8delinsGT	NP_742104.1:n.1471+7_1471+8delinsGT
NM_172107.2:c.1525+7_1525+8delinsGT	NP_742105.1:n.1525+7_1525+8delinsGT
NM_172108.3:c.1435+7_1435+8delinsGT	NP_742106.1:n.1435+7_1435+8delinsGT
XM_006723787.1:c.1525+7_1525+8delinsGT	XP_006723850.1:n.1525+7_1525+8delinsGT
XM_011528807.1:c.1525+7_1525+8delinsGT	XP_011527109.1:n.1525+7_1525+8delinsGT
XM_011528808.1:c.1525+7_1525+8delinsGT	XP_011527110.1:n.1525+7_1525+8delinsGT
XM_011528809.1:c.1495+7_1495+8delinsGT	XP_011527111.1:n.1495+7_1495+8delinsGT
XM_011528810.1:c.1471+7_1471+8delinsGT	XP_011527112.1:n.1471+7_1471+8delinsGT
XM_011528811.1:c.1441+7_1441+8delinsGT	XP_011527113.1:n.1441+7_1441+8delinsGT
XM_011528812.1:c.1525+7_1525+8delinsGT	XP_011527114.1:n.1525+7_1525+8delinsGT
XM_011528813.1:c.1399+7_1399+8delinsGT	XP_011527115.1:n.1399+7_1399+8delinsGT
XM_011528814.1:c.1006+7_1006+8delinsGT	XP_011527116.1:n.1006+7_1006+8delinsGT
XM_011528815.1:c.1525+7_1525+8delinsGT	XP_011527117.1:n.1525+7_1525+8delinsGT
NM_004518.5:c.1441+7_1441+8delinsGT	NP_004509.2:n.1441+7_1441+8delinsGT
NM_172106.2:c.1471+7_1471+8delinsGT	NP_742104.1:n.1471+7_1471+8delinsGT
NM_172107.3:c.1525+7_1525+8delinsGT	NP_742105.1:n.1525+7_1525+8delinsGT
NM_172108.4:c.1435+7_1435+8delinsGT	NP_742106.1:n.1435+7_1435+8delinsGT
XM_011528810.2:c.1471+7_1471+8delinsGT	XP_011527112.1:n.1471+7_1471+8delinsGT
XM_011528811.2:c.1441+7_1441+8delinsGT	XP_011527113.1:n.1441+7_1441+8delinsGT
XM_017027841.2:c.1471+7_1471+8delinsGT	XP_016883330.1:n.1471+7_1471+8delinsGT
XM_017027842.2:c.1471+7_1471+8delinsGT	XP_016883331.1:n.1471+7_1471+8delinsGT
XM_017027843.1:c.1402+7_1402+8delinsGT	XP_016883332.1:n.1402+7_1402+8delinsGT
XM_017027844.2:c.1471+7_1471+8delinsGT	XP_016883333.1:n.1471+7_1471+8delinsGT
XM_017027845.1:c.433+7_433+8delinsGT	XP_016883334.1:n.433+7_433+8delinsGT
NM_004518.6:c.1441+7_1441+8delinsGT	NP_004509.2:n.1441+7_1441+8delinsGT
NM_172106.3:c.1471+7_1471+8delinsGT	NP_742104.1:n.1471+7_1471+8delinsGT
NM_172107.4:c.1525+7_1525+8delinsGT MANE Select	NP_742105.1:n.1525+7_1525+8delinsGT
NM_172108.5:c.1435+7_1435+8delinsGT	NP_742106.1:n.1435+7_1435+8delinsGT
NM_001382235.1:c.1471+7_1471+8delinsGT	NP_001369164.1:n.1471+7_1471+8delinsGT