Canonical Allele Identifier: CA2374774480

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407194_63407195delinsAC , CM000682.2:g.63407194_63407195delinsAC	GRCh38
NC_000020.10:g.62038547_62038548delinsAC , CM000682.1:g.62038547_62038548delinsAC	GRCh37
NC_000020.9:g.61508991_61508992delinsAC	NCBI36
NG_009004.1:g.70446_70447delinsGT
NG_009004.2:g.70446_70447delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2122_2123delinsGT	ENSP00000516702.1:p.Val708=
ENST00000359125.7:c.2068_2069delinsGT MANE Select	ENSP00000352035.2:p.Val690=
ENST00000637193.1:c.1465_1466delinsGT	ENSP00000490734.1:p.Val489=
ENST00000344462.8:c.1975_1976delinsGT	ENSP00000339611.4:p.Val659=
ENST00000357249.6:c.1636_1637delinsGT	ENSP00000349789.3:p.Val546=
ENST00000359125.6:c.2068_2069delinsGT	ENSP00000352035.2:p.Val690=
ENST00000360480.7:c.1984_1985delinsGT	ENSP00000353668.3:p.Val662=
ENST00000370224.5:c.2092_2093delinsGT	ENSP00000359244.2:p.Val698=
ENST00000625514.2:c.2056_2057delinsGT	ENSP00000486040.1:p.Val686=
ENST00000626839.2:c.2014_2015delinsGT	ENSP00000486706.1:p.Val672=
ENST00000629241.2:c.1984_1985delinsGT	ENSP00000487142.1:p.Val662=
ENST00000629676.2:c.1679+6255_1679+6256delinsGT	ENSP00000486194.1:n.1679+6255_1679+6256delinsGT
NM_004518.4:c.1984_1985delinsGT	NP_004509.2:p.Val662=
NM_172106.1:c.2014_2015delinsGT	NP_742104.1:p.Val672=
NM_172107.2:c.2068_2069delinsGT	NP_742105.1:p.Val690=
NM_172108.3:c.1975_1976delinsGT	NP_742106.1:p.Val659=
XM_006723787.1:c.2110_2111delinsGT	XP_006723850.1:p.Val704=
XM_011528807.1:c.2176_2177delinsGT	XP_011527109.1:p.Val726=
XM_011528808.1:c.2173_2174delinsGT	XP_011527110.1:p.Val725=
XM_011528809.1:c.2146_2147delinsGT	XP_011527111.1:p.Val716=
XM_011528810.1:c.2122_2123delinsGT	XP_011527112.1:p.Val708=
XM_011528811.1:c.2092_2093delinsGT	XP_011527113.1:p.Val698=
XM_011528812.1:c.2065_2066delinsGT	XP_011527114.1:p.Val689=
XM_011528813.1:c.2050_2051delinsGT	XP_011527115.1:p.Val684=
XM_011528814.1:c.1657_1658delinsGT	XP_011527116.1:p.Val553=
NM_004518.5:c.1984_1985delinsGT	NP_004509.2:p.Val662=
NM_172106.2:c.2014_2015delinsGT	NP_742104.1:p.Val672=
NM_172107.3:c.2068_2069delinsGT	NP_742105.1:p.Val690=
NM_172108.4:c.1975_1976delinsGT	NP_742106.1:p.Val659=
XM_011528810.2:c.2122_2123delinsGT	XP_011527112.1:p.Val708=
XM_011528811.2:c.2092_2093delinsGT	XP_011527113.1:p.Val698=
XM_017027841.2:c.2119_2120delinsGT	XP_016883330.1:p.Val707=
XM_017027842.2:c.2056_2057delinsGT	XP_016883331.1:p.Val686=
XM_017027843.1:c.2053_2054delinsGT	XP_016883332.1:p.Val685=
XM_017027844.2:c.2011_2012delinsGT	XP_016883333.1:p.Val671=
XM_017027845.1:c.1084_1085delinsGT	XP_016883334.1:p.Val362=
NM_004518.6:c.1984_1985delinsGT	NP_004509.2:p.Val662=
NM_172106.3:c.2014_2015delinsGT	NP_742104.1:p.Val672=
NM_172107.4:c.2068_2069delinsGT MANE Select	NP_742105.1:p.Val690=
NM_172108.5:c.1975_1976delinsGT	NP_742106.1:p.Val659=
NM_001382235.1:c.2122_2123delinsGT	NP_001369164.1:p.Val708=