Canonical Allele Identifier: CA2374774574

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407374_63407375delinsAC , CM000682.2:g.63407374_63407375delinsAC	GRCh38
NC_000020.10:g.62038727_62038728delinsAC , CM000682.1:g.62038727_62038728delinsAC	GRCh37
NC_000020.9:g.61509171_61509172delinsAC	NCBI36
NG_009004.1:g.70266_70267delinsGT
NG_009004.2:g.70266_70267delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1942_1943delinsGT	ENSP00000516702.1:p.Val648=
ENST00000359125.7:c.1888_1889delinsGT MANE Select	ENSP00000352035.2:p.Val630=
ENST00000637193.1:c.1285_1286delinsGT	ENSP00000490734.1:p.Val429=
ENST00000637338.1:n.45_46delinsGT
ENST00000344462.8:c.1795_1796delinsGT	ENSP00000339611.4:p.Val599=
ENST00000357249.6:c.1456_1457delinsGT	ENSP00000349789.3:p.Val486=
ENST00000359125.6:c.1888_1889delinsGT	ENSP00000352035.2:p.Val630=
ENST00000360480.7:c.1804_1805delinsGT	ENSP00000353668.3:p.Val602=
ENST00000370224.5:c.1912_1913delinsGT	ENSP00000359244.2:p.Val638=
ENST00000625514.2:c.1876_1877delinsGT	ENSP00000486040.1:p.Val626=
ENST00000626839.2:c.1834_1835delinsGT	ENSP00000486706.1:p.Val612=
ENST00000629241.2:c.1804_1805delinsGT	ENSP00000487142.1:p.Val602=
ENST00000629676.2:c.1679+6075_1679+6076delinsGT	ENSP00000486194.1:n.1679+6075_1679+6076delinsGT
NM_004518.4:c.1804_1805delinsGT	NP_004509.2:p.Val602=
NM_172106.1:c.1834_1835delinsGT	NP_742104.1:p.Val612=
NM_172107.2:c.1888_1889delinsGT	NP_742105.1:p.Val630=
NM_172108.3:c.1795_1796delinsGT	NP_742106.1:p.Val599=
XM_006723787.1:c.1930_1931delinsGT	XP_006723850.1:p.Val644=
XM_011528807.1:c.1996_1997delinsGT	XP_011527109.1:p.Val666=
XM_011528808.1:c.1993_1994delinsGT	XP_011527110.1:p.Val665=
XM_011528809.1:c.1966_1967delinsGT	XP_011527111.1:p.Val656=
XM_011528810.1:c.1942_1943delinsGT	XP_011527112.1:p.Val648=
XM_011528811.1:c.1912_1913delinsGT	XP_011527113.1:p.Val638=
XM_011528812.1:c.1885_1886delinsGT	XP_011527114.1:p.Val629=
XM_011528813.1:c.1870_1871delinsGT	XP_011527115.1:p.Val624=
XM_011528814.1:c.1477_1478delinsGT	XP_011527116.1:p.Val493=
NM_004518.5:c.1804_1805delinsGT	NP_004509.2:p.Val602=
NM_172106.2:c.1834_1835delinsGT	NP_742104.1:p.Val612=
NM_172107.3:c.1888_1889delinsGT	NP_742105.1:p.Val630=
NM_172108.4:c.1795_1796delinsGT	NP_742106.1:p.Val599=
XM_011528810.2:c.1942_1943delinsGT	XP_011527112.1:p.Val648=
XM_011528811.2:c.1912_1913delinsGT	XP_011527113.1:p.Val638=
XM_017027841.2:c.1939_1940delinsGT	XP_016883330.1:p.Val647=
XM_017027842.2:c.1876_1877delinsGT	XP_016883331.1:p.Val626=
XM_017027843.1:c.1873_1874delinsGT	XP_016883332.1:p.Val625=
XM_017027844.2:c.1831_1832delinsGT	XP_016883333.1:p.Val611=
XM_017027845.1:c.904_905delinsGT	XP_016883334.1:p.Val302=
NM_004518.6:c.1804_1805delinsGT	NP_004509.2:p.Val602=
NM_172106.3:c.1834_1835delinsGT	NP_742104.1:p.Val612=
NM_172107.4:c.1888_1889delinsGT MANE Select	NP_742105.1:p.Val630=
NM_172108.5:c.1795_1796delinsGT	NP_742106.1:p.Val599=
NM_001382235.1:c.1942_1943delinsGT	NP_001369164.1:p.Val648=