Canonical Allele Identifier: CA2580616359

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1783453
• ClinVar RCV Id: RCV002421762

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407303_63407304del , CM000682.2:g.63407303_63407304del	GRCh38
NC_000020.10:g.62038656_62038657del , CM000682.1:g.62038656_62038657del	GRCh37
NC_000020.9:g.61509100_61509101del	NCBI36
NG_009004.1:g.70340_70341del
NG_009004.2:g.70340_70341del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2016_2017del	ENSP00000516702.1:p.Glu672AspfsTer?
ENST00000359125.7:c.1962_1963del MANE Select	ENSP00000352035.2:p.Glu654AspfsTer?
ENST00000637193.1:c.1359_1360del	ENSP00000490734.1:p.Glu453AspfsTer?
ENST00000344462.8:c.1869_1870del	ENSP00000339611.4:p.Glu623AspfsTer?
ENST00000357249.6:c.1530_1531del	ENSP00000349789.3:p.Glu510AspfsTer?
ENST00000359125.6:c.1962_1963del	ENSP00000352035.2:p.Glu654AspfsTer?
ENST00000360480.7:c.1878_1879del	ENSP00000353668.3:p.Glu626AspfsTer?
ENST00000370224.5:c.1986_1987del	ENSP00000359244.2:p.Glu662AspfsTer?
ENST00000625514.2:c.1950_1951del	ENSP00000486040.1:p.Glu650AspfsTer?
ENST00000626839.2:c.1908_1909del	ENSP00000486706.1:p.Glu636AspfsTer?
ENST00000629241.2:c.1878_1879del	ENSP00000487142.1:p.Glu626AspfsTer?
ENST00000629676.2:c.1679+6149_1679+6150del	ENSP00000486194.1:n.1679+6149_1679+6150del
NM_004518.4:c.1878_1879del	NP_004509.2:p.Glu626AspfsTer?
NM_172106.1:c.1908_1909del	NP_742104.1:p.Glu636AspfsTer?
NM_172107.2:c.1962_1963del	NP_742105.1:p.Glu654AspfsTer?
NM_172108.3:c.1869_1870del	NP_742106.1:p.Glu623AspfsTer?
XM_006723787.1:c.2004_2005del	XP_006723850.1:p.Glu668AspfsTer?
XM_011528807.1:c.2070_2071del	XP_011527109.1:p.Glu690AspfsTer?
XM_011528808.1:c.2067_2068del	XP_011527110.1:p.Glu689AspfsTer?
XM_011528809.1:c.2040_2041del	XP_011527111.1:p.Glu680AspfsTer?
XM_011528810.1:c.2016_2017del	XP_011527112.1:p.Glu672AspfsTer?
XM_011528811.1:c.1986_1987del	XP_011527113.1:p.Glu662AspfsTer?
XM_011528812.1:c.1959_1960del	XP_011527114.1:p.Glu653AspfsTer?
XM_011528813.1:c.1944_1945del	XP_011527115.1:p.Glu648AspfsTer?
XM_011528814.1:c.1551_1552del	XP_011527116.1:p.Glu517AspfsTer?
NM_004518.5:c.1878_1879del	NP_004509.2:p.Glu626AspfsTer?
NM_172106.2:c.1908_1909del	NP_742104.1:p.Glu636AspfsTer?
NM_172107.3:c.1962_1963del	NP_742105.1:p.Glu654AspfsTer?
NM_172108.4:c.1869_1870del	NP_742106.1:p.Glu623AspfsTer?
XM_011528810.2:c.2016_2017del	XP_011527112.1:p.Glu672AspfsTer?
XM_011528811.2:c.1986_1987del	XP_011527113.1:p.Glu662AspfsTer?
XM_017027841.2:c.2013_2014del	XP_016883330.1:p.Glu671AspfsTer?
XM_017027842.2:c.1950_1951del	XP_016883331.1:p.Glu650AspfsTer?
XM_017027843.1:c.1947_1948del	XP_016883332.1:p.Glu649AspfsTer?
XM_017027844.2:c.1905_1906del	XP_016883333.1:p.Glu635AspfsTer?
XM_017027845.1:c.978_979del	XP_016883334.1:p.Glu326AspfsTer?
NM_004518.6:c.1878_1879del	NP_004509.2:p.Glu626AspfsTer?
NM_172106.3:c.1908_1909del	NP_742104.1:p.Glu636AspfsTer?
NM_172107.4:c.1962_1963del MANE Select	NP_742105.1:p.Glu654AspfsTer?
NM_172108.5:c.1869_1870del	NP_742106.1:p.Glu623AspfsTer?
NM_001382235.1:c.2016_2017del	NP_001369164.1:p.Glu672AspfsTer?