Canonical Allele Identifier: CA409639162

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038594T>A (hg19) ; chr20:g.63407241T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407241T>A , CM000682.2:g.63407241T>A	GRCh38
NC_000020.10:g.62038594T>A , CM000682.1:g.62038594T>A	GRCh37
NC_000020.9:g.61509038T>A	NCBI36
NG_009004.1:g.70400A>T
NG_009004.2:g.70400A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2076A>T	ENSP00000516702.1:p.Glu692Asp
ENST00000359125.7:c.2022A>T MANE Select	ENSP00000352035.2:p.Glu674Asp
ENST00000637193.1:c.1419A>T	ENSP00000490734.1:p.Glu473Asp
ENST00000344462.8:c.1929A>T	ENSP00000339611.4:p.Glu643Asp
ENST00000357249.6:c.1590A>T	ENSP00000349789.3:p.Glu530Asp
ENST00000359125.6:c.2022A>T	ENSP00000352035.2:p.Glu674Asp
ENST00000360480.7:c.1938A>T	ENSP00000353668.3:p.Glu646Asp
ENST00000370224.5:c.2046A>T	ENSP00000359244.2:p.Glu682Asp
ENST00000625514.2:c.2010A>T	ENSP00000486040.1:p.Glu670Asp
ENST00000626839.2:c.1968A>T	ENSP00000486706.1:p.Glu656Asp
ENST00000629241.2:c.1938A>T	ENSP00000487142.1:p.Glu646Asp
ENST00000629676.2:c.1679+6209A>T	ENSP00000486194.1:n.1679+6209A>T
NM_004518.4:c.1938A>T	NP_004509.2:p.Glu646Asp
NM_172106.1:c.1968A>T	NP_742104.1:p.Glu656Asp
NM_172107.2:c.2022A>T	NP_742105.1:p.Glu674Asp
NM_172108.3:c.1929A>T	NP_742106.1:p.Glu643Asp
XM_006723787.1:c.2064A>T	XP_006723850.1:p.Glu688Asp
XM_011528807.1:c.2130A>T	XP_011527109.1:p.Glu710Asp
XM_011528808.1:c.2127A>T	XP_011527110.1:p.Glu709Asp
XM_011528809.1:c.2100A>T	XP_011527111.1:p.Glu700Asp
XM_011528810.1:c.2076A>T	XP_011527112.1:p.Glu692Asp
XM_011528811.1:c.2046A>T	XP_011527113.1:p.Glu682Asp
XM_011528812.1:c.2019A>T	XP_011527114.1:p.Glu673Asp
XM_011528813.1:c.2004A>T	XP_011527115.1:p.Glu668Asp
XM_011528814.1:c.1611A>T	XP_011527116.1:p.Glu537Asp
NM_004518.5:c.1938A>T	NP_004509.2:p.Glu646Asp
NM_172106.2:c.1968A>T	NP_742104.1:p.Glu656Asp
NM_172107.3:c.2022A>T	NP_742105.1:p.Glu674Asp
NM_172108.4:c.1929A>T	NP_742106.1:p.Glu643Asp
XM_011528810.2:c.2076A>T	XP_011527112.1:p.Glu692Asp
XM_011528811.2:c.2046A>T	XP_011527113.1:p.Glu682Asp
XM_017027841.2:c.2073A>T	XP_016883330.1:p.Glu691Asp
XM_017027842.2:c.2010A>T	XP_016883331.1:p.Glu670Asp
XM_017027843.1:c.2007A>T	XP_016883332.1:p.Glu669Asp
XM_017027844.2:c.1965A>T	XP_016883333.1:p.Glu655Asp
XM_017027845.1:c.1038A>T	XP_016883334.1:p.Glu346Asp
NM_004518.6:c.1938A>T	NP_004509.2:p.Glu646Asp
NM_172106.3:c.1968A>T	NP_742104.1:p.Glu656Asp
NM_172107.4:c.2022A>T MANE Select	NP_742105.1:p.Glu674Asp
NM_172108.5:c.1929A>T	NP_742106.1:p.Glu643Asp
NM_001382235.1:c.2076A>T	NP_001369164.1:p.Glu692Asp