Canonical Allele Identifier: CA409637896

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406958-C-T
• COSMIC: COSM6018001 ; COSM6018002 ; COSM6018003
• MyVariant Identifiers: chr20:g.62038311C>T (hg19) ; chr20:g.63406958C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406958C>T , CM000682.2:g.63406958C>T	GRCh38
NC_000020.10:g.62038311C>T , CM000682.1:g.62038311C>T	GRCh37
NC_000020.9:g.61508755C>T	NCBI36
NG_009004.1:g.70683G>A
NG_009004.2:g.70683G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2359G>A	ENSP00000516702.1:p.Glu787Lys
ENST00000359125.7:c.2305G>A MANE Select	ENSP00000352035.2:p.Glu769Lys
ENST00000637193.1:c.1702G>A	ENSP00000490734.1:p.Glu568Lys
ENST00000344462.8:c.2212G>A	ENSP00000339611.4:p.Glu738Lys
ENST00000357249.6:c.1873G>A	ENSP00000349789.3:p.Glu625Lys
ENST00000359125.6:c.2305G>A	ENSP00000352035.2:p.Glu769Lys
ENST00000360480.7:c.2221G>A	ENSP00000353668.3:p.Glu741Lys
ENST00000370224.5:c.2241+88G>A	ENSP00000359244.2:n.2241+88G>A
ENST00000625514.2:c.2205+88G>A	ENSP00000486040.1:n.2205+88G>A
ENST00000626839.2:c.2251G>A	ENSP00000486706.1:p.Glu751Lys
ENST00000629241.2:c.2133+88G>A	ENSP00000487142.1:n.2133+88G>A
ENST00000629676.2:c.1680-6115G>A	ENSP00000486194.1:n.1680-6115G>A
NM_004518.4:c.2221G>A	NP_004509.2:p.Glu741Lys
NM_172106.1:c.2251G>A	NP_742104.1:p.Glu751Lys
NM_172107.2:c.2305G>A	NP_742105.1:p.Glu769Lys
NM_172108.3:c.2212G>A	NP_742106.1:p.Glu738Lys
XM_006723787.1:c.2347G>A	XP_006723850.1:p.Glu783Lys
XM_011528807.1:c.2413G>A	XP_011527109.1:p.Glu805Lys
XM_011528808.1:c.2410G>A	XP_011527110.1:p.Glu804Lys
XM_011528809.1:c.2383G>A	XP_011527111.1:p.Glu795Lys
XM_011528810.1:c.2359G>A	XP_011527112.1:p.Glu787Lys
XM_011528811.1:c.2329G>A	XP_011527113.1:p.Glu777Lys
XM_011528812.1:c.2302G>A	XP_011527114.1:p.Glu768Lys
XM_011528813.1:c.2287G>A	XP_011527115.1:p.Glu763Lys
XM_011528814.1:c.1894G>A	XP_011527116.1:p.Glu632Lys
NM_004518.5:c.2221G>A	NP_004509.2:p.Glu741Lys
NM_172106.2:c.2251G>A	NP_742104.1:p.Glu751Lys
NM_172107.3:c.2305G>A	NP_742105.1:p.Glu769Lys
NM_172108.4:c.2212G>A	NP_742106.1:p.Glu738Lys
XM_011528810.2:c.2359G>A	XP_011527112.1:p.Glu787Lys
XM_011528811.2:c.2329G>A	XP_011527113.1:p.Glu777Lys
XM_017027841.2:c.2356G>A	XP_016883330.1:p.Glu786Lys
XM_017027842.2:c.2293G>A	XP_016883331.1:p.Glu765Lys
XM_017027843.1:c.2290G>A	XP_016883332.1:p.Glu764Lys
XM_017027844.2:c.2248G>A	XP_016883333.1:p.Glu750Lys
XM_017027845.1:c.1321G>A	XP_016883334.1:p.Glu441Lys
NM_004518.6:c.2221G>A	NP_004509.2:p.Glu741Lys
NM_172106.3:c.2251G>A	NP_742104.1:p.Glu751Lys
NM_172107.4:c.2305G>A MANE Select	NP_742105.1:p.Glu769Lys
NM_172108.5:c.2212G>A	NP_742106.1:p.Glu738Lys
NM_001382235.1:c.2359G>A	NP_001369164.1:p.Glu787Lys