Canonical Allele Identifier: CA409637707

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406930-T-C
• MyVariant Identifiers: chr20:g.62038283T>C (hg19) ; chr20:g.63406930T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2387A>G	ENSP00000516702.1:p.Glu796Gly
ENST00000359125.7:c.2333A>G MANE Select	ENSP00000352035.2:p.Glu778Gly
ENST00000637193.1:c.1730A>G	ENSP00000490734.1:p.Glu577Gly
ENST00000344462.8:c.2240A>G	ENSP00000339611.4:p.Glu747Gly
ENST00000357249.6:c.1901A>G	ENSP00000349789.3:p.Glu634Gly
ENST00000359125.6:c.2333A>G	ENSP00000352035.2:p.Glu778Gly
ENST00000360480.7:c.2249A>G	ENSP00000353668.3:p.Glu750Gly
ENST00000370224.5:c.2241+116A>G	ENSP00000359244.2:n.2241+116A>G
ENST00000625514.2:c.2205+116A>G	ENSP00000486040.1:n.2205+116A>G
ENST00000626839.2:c.2279A>G	ENSP00000486706.1:p.Glu760Gly
ENST00000629241.2:c.2133+116A>G	ENSP00000487142.1:n.2133+116A>G
ENST00000629676.2:c.1680-6087A>G	ENSP00000486194.1:n.1680-6087A>G
NM_004518.4:c.2249A>G	NP_004509.2:p.Glu750Gly
NM_172106.1:c.2279A>G	NP_742104.1:p.Glu760Gly
NM_172107.2:c.2333A>G	NP_742105.1:p.Glu778Gly
NM_172108.3:c.2240A>G	NP_742106.1:p.Glu747Gly
XM_006723787.1:c.2375A>G	XP_006723850.1:p.Glu792Gly
XM_011528807.1:c.2441A>G	XP_011527109.1:p.Glu814Gly
XM_011528808.1:c.2438A>G	XP_011527110.1:p.Glu813Gly
XM_011528809.1:c.2411A>G	XP_011527111.1:p.Glu804Gly
XM_011528810.1:c.2387A>G	XP_011527112.1:p.Glu796Gly
XM_011528811.1:c.2357A>G	XP_011527113.1:p.Glu786Gly
XM_011528812.1:c.2330A>G	XP_011527114.1:p.Glu777Gly
XM_011528813.1:c.2315A>G	XP_011527115.1:p.Glu772Gly
XM_011528814.1:c.1922A>G	XP_011527116.1:p.Glu641Gly
NM_004518.5:c.2249A>G	NP_004509.2:p.Glu750Gly
NM_172106.2:c.2279A>G	NP_742104.1:p.Glu760Gly
NM_172107.3:c.2333A>G	NP_742105.1:p.Glu778Gly
NM_172108.4:c.2240A>G	NP_742106.1:p.Glu747Gly
XM_011528810.2:c.2387A>G	XP_011527112.1:p.Glu796Gly
XM_011528811.2:c.2357A>G	XP_011527113.1:p.Glu786Gly
XM_017027841.2:c.2384A>G	XP_016883330.1:p.Glu795Gly
XM_017027842.2:c.2321A>G	XP_016883331.1:p.Glu774Gly
XM_017027843.1:c.2318A>G	XP_016883332.1:p.Glu773Gly
XM_017027844.2:c.2276A>G	XP_016883333.1:p.Glu759Gly
XM_017027845.1:c.1349A>G	XP_016883334.1:p.Glu450Gly
NM_004518.6:c.2249A>G	NP_004509.2:p.Glu750Gly
NM_172106.3:c.2279A>G	NP_742104.1:p.Glu760Gly
NM_172107.4:c.2333A>G MANE Select	NP_742105.1:p.Glu778Gly
NM_172108.5:c.2240A>G	NP_742106.1:p.Glu747Gly
NM_001382235.1:c.2387A>G	NP_001369164.1:p.Glu796Gly