Canonical Allele Identifier: CA2374778990

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415319_63415320delinsAG , CM000682.2:g.63415319_63415320delinsAG	GRCh38
NC_000020.10:g.62046672_62046673delinsAG , CM000682.1:g.62046672_62046673delinsAG	GRCh37
NC_000020.9:g.61517116_61517117delinsAG	NCBI36
NG_009004.1:g.62321_62322delinsCT
NG_009004.2:g.62321_62322delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1248-194_1248-193delinsCT	ENSP00000516702.1:n.1248-194_1248-193delinsCT
ENST00000359125.7:c.1302-194_1302-193delinsCT MANE Select	ENSP00000352035.2:n.1302-194_1302-193delinsCT
ENST00000637193.1:c.699-194_699-193delinsCT	ENSP00000490734.1:n.699-194_699-193delinsCT
ENST00000637584.1:n.75-230_75-229delinsCT
ENST00000344462.8:c.1248-230_1248-229delinsCT	ENSP00000339611.4:n.1248-230_1248-229delinsCT
ENST00000357249.6:c.906-230_906-229delinsCT	ENSP00000349789.3:n.906-230_906-229delinsCT
ENST00000359125.6:c.1302-194_1302-193delinsCT	ENSP00000352035.2:n.1302-194_1302-193delinsCT
ENST00000360480.7:c.1218-194_1218-193delinsCT	ENSP00000353668.3:n.1218-194_1218-193delinsCT
ENST00000370224.5:c.1218-194_1218-193delinsCT	ENSP00000359244.2:n.1218-194_1218-193delinsCT
ENST00000625514.2:c.1218-230_1218-229delinsCT	ENSP00000486040.1:n.1218-230_1218-229delinsCT
ENST00000626839.2:c.1248-194_1248-193delinsCT	ENSP00000486706.1:n.1248-194_1248-193delinsCT
ENST00000627221.2:c.362-194_362-193delinsCT
ENST00000629241.2:c.1218-194_1218-193delinsCT	ENSP00000487142.1:n.1218-194_1218-193delinsCT
ENST00000629676.2:c.1218-194_1218-193delinsCT	ENSP00000486194.1:n.1218-194_1218-193delinsCT
NM_004518.4:c.1218-194_1218-193delinsCT	NP_004509.2:n.1218-194_1218-193delinsCT
NM_172106.1:c.1248-194_1248-193delinsCT	NP_742104.1:n.1248-194_1248-193delinsCT
NM_172107.2:c.1302-194_1302-193delinsCT	NP_742105.1:n.1302-194_1302-193delinsCT
NM_172108.3:c.1248-230_1248-229delinsCT	NP_742106.1:n.1248-230_1248-229delinsCT
XM_006723787.1:c.1302-194_1302-193delinsCT	XP_006723850.1:n.1302-194_1302-193delinsCT
XM_011528807.1:c.1302-194_1302-193delinsCT	XP_011527109.1:n.1302-194_1302-193delinsCT
XM_011528808.1:c.1302-194_1302-193delinsCT	XP_011527110.1:n.1302-194_1302-193delinsCT
XM_011528809.1:c.1272-194_1272-193delinsCT	XP_011527111.1:n.1272-194_1272-193delinsCT
XM_011528810.1:c.1248-194_1248-193delinsCT	XP_011527112.1:n.1248-194_1248-193delinsCT
XM_011528811.1:c.1218-194_1218-193delinsCT	XP_011527113.1:n.1218-194_1218-193delinsCT
XM_011528812.1:c.1302-194_1302-193delinsCT	XP_011527114.1:n.1302-194_1302-193delinsCT
XM_011528813.1:c.1176-194_1176-193delinsCT	XP_011527115.1:n.1176-194_1176-193delinsCT
XM_011528814.1:c.783-194_783-193delinsCT	XP_011527116.1:n.783-194_783-193delinsCT
XM_011528815.1:c.1302-194_1302-193delinsCT	XP_011527117.1:n.1302-194_1302-193delinsCT
NM_004518.5:c.1218-194_1218-193delinsCT	NP_004509.2:n.1218-194_1218-193delinsCT
NM_172106.2:c.1248-194_1248-193delinsCT	NP_742104.1:n.1248-194_1248-193delinsCT
NM_172107.3:c.1302-194_1302-193delinsCT	NP_742105.1:n.1302-194_1302-193delinsCT
NM_172108.4:c.1248-230_1248-229delinsCT	NP_742106.1:n.1248-230_1248-229delinsCT
XM_011528810.2:c.1248-194_1248-193delinsCT	XP_011527112.1:n.1248-194_1248-193delinsCT
XM_011528811.2:c.1218-194_1218-193delinsCT	XP_011527113.1:n.1218-194_1218-193delinsCT
XM_017027841.2:c.1248-194_1248-193delinsCT	XP_016883330.1:n.1248-194_1248-193delinsCT
XM_017027842.2:c.1248-194_1248-193delinsCT	XP_016883331.1:n.1248-194_1248-193delinsCT
XM_017027843.1:c.1179-194_1179-193delinsCT	XP_016883332.1:n.1179-194_1179-193delinsCT
XM_017027844.2:c.1248-194_1248-193delinsCT	XP_016883333.1:n.1248-194_1248-193delinsCT
XM_017027845.1:c.210-194_210-193delinsCT	XP_016883334.1:n.210-194_210-193delinsCT
NM_004518.6:c.1218-194_1218-193delinsCT	NP_004509.2:n.1218-194_1218-193delinsCT
NM_172106.3:c.1248-194_1248-193delinsCT	NP_742104.1:n.1248-194_1248-193delinsCT
NM_172107.4:c.1302-194_1302-193delinsCT MANE Select	NP_742105.1:n.1302-194_1302-193delinsCT
NM_172108.5:c.1248-230_1248-229delinsCT	NP_742106.1:n.1248-230_1248-229delinsCT
NM_001382235.1:c.1248-194_1248-193delinsCT	NP_001369164.1:n.1248-194_1248-193delinsCT