Canonical Allele Identifier: CA409637718

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406931-C-A
• MyVariant Identifiers: chr20:g.62038284C>A (hg19) ; chr20:g.63406931C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406931C>A , CM000682.2:g.63406931C>A	GRCh38
NC_000020.10:g.62038284C>A , CM000682.1:g.62038284C>A	GRCh37
NC_000020.9:g.61508728C>A	NCBI36
NG_009004.1:g.70710G>T
NG_009004.2:g.70710G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2386G>T	ENSP00000516702.1:p.Glu796Ter
ENST00000359125.7:c.2332G>T MANE Select	ENSP00000352035.2:p.Glu778Ter
ENST00000637193.1:c.1729G>T	ENSP00000490734.1:p.Glu577Ter
ENST00000344462.8:c.2239G>T	ENSP00000339611.4:p.Glu747Ter
ENST00000357249.6:c.1900G>T	ENSP00000349789.3:p.Glu634Ter
ENST00000359125.6:c.2332G>T	ENSP00000352035.2:p.Glu778Ter
ENST00000360480.7:c.2248G>T	ENSP00000353668.3:p.Glu750Ter
ENST00000370224.5:c.2241+115G>T	ENSP00000359244.2:n.2241+115G>T
ENST00000625514.2:c.2205+115G>T	ENSP00000486040.1:n.2205+115G>T
ENST00000626839.2:c.2278G>T	ENSP00000486706.1:p.Glu760Ter
ENST00000629241.2:c.2133+115G>T	ENSP00000487142.1:n.2133+115G>T
ENST00000629676.2:c.1680-6088G>T	ENSP00000486194.1:n.1680-6088G>T
NM_004518.4:c.2248G>T	NP_004509.2:p.Glu750Ter
NM_172106.1:c.2278G>T	NP_742104.1:p.Glu760Ter
NM_172107.2:c.2332G>T	NP_742105.1:p.Glu778Ter
NM_172108.3:c.2239G>T	NP_742106.1:p.Glu747Ter
XM_006723787.1:c.2374G>T	XP_006723850.1:p.Glu792Ter
XM_011528807.1:c.2440G>T	XP_011527109.1:p.Glu814Ter
XM_011528808.1:c.2437G>T	XP_011527110.1:p.Glu813Ter
XM_011528809.1:c.2410G>T	XP_011527111.1:p.Glu804Ter
XM_011528810.1:c.2386G>T	XP_011527112.1:p.Glu796Ter
XM_011528811.1:c.2356G>T	XP_011527113.1:p.Glu786Ter
XM_011528812.1:c.2329G>T	XP_011527114.1:p.Glu777Ter
XM_011528813.1:c.2314G>T	XP_011527115.1:p.Glu772Ter
XM_011528814.1:c.1921G>T	XP_011527116.1:p.Glu641Ter
NM_004518.5:c.2248G>T	NP_004509.2:p.Glu750Ter
NM_172106.2:c.2278G>T	NP_742104.1:p.Glu760Ter
NM_172107.3:c.2332G>T	NP_742105.1:p.Glu778Ter
NM_172108.4:c.2239G>T	NP_742106.1:p.Glu747Ter
XM_011528810.2:c.2386G>T	XP_011527112.1:p.Glu796Ter
XM_011528811.2:c.2356G>T	XP_011527113.1:p.Glu786Ter
XM_017027841.2:c.2383G>T	XP_016883330.1:p.Glu795Ter
XM_017027842.2:c.2320G>T	XP_016883331.1:p.Glu774Ter
XM_017027843.1:c.2317G>T	XP_016883332.1:p.Glu773Ter
XM_017027844.2:c.2275G>T	XP_016883333.1:p.Glu759Ter
XM_017027845.1:c.1348G>T	XP_016883334.1:p.Glu450Ter
NM_004518.6:c.2248G>T	NP_004509.2:p.Glu750Ter
NM_172106.3:c.2278G>T	NP_742104.1:p.Glu760Ter
NM_172107.4:c.2332G>T MANE Select	NP_742105.1:p.Glu778Ter
NM_172108.5:c.2239G>T	NP_742106.1:p.Glu747Ter
NM_001382235.1:c.2386G>T	NP_001369164.1:p.Glu796Ter