Canonical Allele Identifier: CA9958096

Gene: KCNQ2

Linked Data

• dbSNP Id: rs747215441
• ExAC: 20:62038283 T / A
• gnomAD v2: 20-62038283-T-A
• gnomAD v3: 20-63406930-T-A
• gnomAD v4: 20-63406930-T-A
• MyVariant Identifiers: chr20:g.62038283T>A (hg19) ; chr20:g.63406930T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406930T>A , CM000682.2:g.63406930T>A	GRCh38
NC_000020.10:g.62038283T>A , CM000682.1:g.62038283T>A	GRCh37
NC_000020.9:g.61508727T>A	NCBI36
NG_009004.1:g.70711A>T
NG_009004.2:g.70711A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2387A>T	ENSP00000516702.1:p.Glu796Val
ENST00000359125.7:c.2333A>T MANE Select	ENSP00000352035.2:p.Glu778Val
ENST00000637193.1:c.1730A>T	ENSP00000490734.1:p.Glu577Val
ENST00000344462.8:c.2240A>T	ENSP00000339611.4:p.Glu747Val
ENST00000357249.6:c.1901A>T	ENSP00000349789.3:p.Glu634Val
ENST00000359125.6:c.2333A>T	ENSP00000352035.2:p.Glu778Val
ENST00000360480.7:c.2249A>T	ENSP00000353668.3:p.Glu750Val
ENST00000370224.5:c.2241+116A>T	ENSP00000359244.2:n.2241+116A>T
ENST00000625514.2:c.2205+116A>T	ENSP00000486040.1:n.2205+116A>T
ENST00000626839.2:c.2279A>T	ENSP00000486706.1:p.Glu760Val
ENST00000629241.2:c.2133+116A>T	ENSP00000487142.1:n.2133+116A>T
ENST00000629676.2:c.1680-6087A>T	ENSP00000486194.1:n.1680-6087A>T
NM_004518.4:c.2249A>T	NP_004509.2:p.Glu750Val
NM_172106.1:c.2279A>T	NP_742104.1:p.Glu760Val
NM_172107.2:c.2333A>T	NP_742105.1:p.Glu778Val
NM_172108.3:c.2240A>T	NP_742106.1:p.Glu747Val
XM_006723787.1:c.2375A>T	XP_006723850.1:p.Glu792Val
XM_011528807.1:c.2441A>T	XP_011527109.1:p.Glu814Val
XM_011528808.1:c.2438A>T	XP_011527110.1:p.Glu813Val
XM_011528809.1:c.2411A>T	XP_011527111.1:p.Glu804Val
XM_011528810.1:c.2387A>T	XP_011527112.1:p.Glu796Val
XM_011528811.1:c.2357A>T	XP_011527113.1:p.Glu786Val
XM_011528812.1:c.2330A>T	XP_011527114.1:p.Glu777Val
XM_011528813.1:c.2315A>T	XP_011527115.1:p.Glu772Val
XM_011528814.1:c.1922A>T	XP_011527116.1:p.Glu641Val
NM_004518.5:c.2249A>T	NP_004509.2:p.Glu750Val
NM_172106.2:c.2279A>T	NP_742104.1:p.Glu760Val
NM_172107.3:c.2333A>T	NP_742105.1:p.Glu778Val
NM_172108.4:c.2240A>T	NP_742106.1:p.Glu747Val
XM_011528810.2:c.2387A>T	XP_011527112.1:p.Glu796Val
XM_011528811.2:c.2357A>T	XP_011527113.1:p.Glu786Val
XM_017027841.2:c.2384A>T	XP_016883330.1:p.Glu795Val
XM_017027842.2:c.2321A>T	XP_016883331.1:p.Glu774Val
XM_017027843.1:c.2318A>T	XP_016883332.1:p.Glu773Val
XM_017027844.2:c.2276A>T	XP_016883333.1:p.Glu759Val
XM_017027845.1:c.1349A>T	XP_016883334.1:p.Glu450Val
NM_004518.6:c.2249A>T	NP_004509.2:p.Glu750Val
NM_172106.3:c.2279A>T	NP_742104.1:p.Glu760Val
NM_172107.4:c.2333A>T MANE Select	NP_742105.1:p.Glu778Val
NM_172108.5:c.2240A>T	NP_742106.1:p.Glu747Val
NM_001382235.1:c.2387A>T	NP_001369164.1:p.Glu796Val