Canonical Allele Identifier: CA511339374

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038180C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406827C>T , CM000682.2:g.63406827C>T	GRCh38
NC_000020.10:g.62038180C>T , CM000682.1:g.62038180C>T	GRCh37
NC_000020.9:g.61508624C>T	NCBI36
NG_009004.1:g.70814G>A
NG_009004.2:g.70814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2490G>A	ENSP00000516702.1:p.Glu830=
ENST00000359125.7:c.2436G>A MANE Select	ENSP00000352035.2:p.Glu812=
ENST00000637193.1:c.1833G>A	ENSP00000490734.1:p.Glu611=
ENST00000344462.8:c.2343G>A	ENSP00000339611.4:p.Glu781=
ENST00000357249.6:c.2004G>A	ENSP00000349789.3:p.Glu668=
ENST00000359125.6:c.2436G>A	ENSP00000352035.2:p.Glu812=
ENST00000360480.7:c.2352G>A	ENSP00000353668.3:p.Glu784=
ENST00000370224.5:c.2241+219G>A	ENSP00000359244.2:n.2241+219G>A
ENST00000625514.2:c.2205+219G>A	ENSP00000486040.1:n.2205+219G>A
ENST00000626839.2:c.2382G>A	ENSP00000486706.1:p.Glu794=
ENST00000629241.2:c.2133+219G>A	ENSP00000487142.1:n.2133+219G>A
ENST00000629676.2:c.1680-5984G>A	ENSP00000486194.1:n.1680-5984G>A
NM_004518.4:c.2352G>A	NP_004509.2:p.Glu784=
NM_172106.1:c.2382G>A	NP_742104.1:p.Glu794=
NM_172107.2:c.2436G>A	NP_742105.1:p.Glu812=
NM_172108.3:c.2343G>A	NP_742106.1:p.Glu781=
XM_006723787.1:c.2478G>A	XP_006723850.1:p.Glu826=
XM_011528807.1:c.2544G>A	XP_011527109.1:p.Glu848=
XM_011528808.1:c.2541G>A	XP_011527110.1:p.Glu847=
XM_011528809.1:c.2514G>A	XP_011527111.1:p.Glu838=
XM_011528810.1:c.2490G>A	XP_011527112.1:p.Glu830=
XM_011528811.1:c.2460G>A	XP_011527113.1:p.Glu820=
XM_011528812.1:c.2433G>A	XP_011527114.1:p.Glu811=
XM_011528813.1:c.2418G>A	XP_011527115.1:p.Glu806=
XM_011528814.1:c.2025G>A	XP_011527116.1:p.Glu675=
NM_004518.5:c.2352G>A	NP_004509.2:p.Glu784=
NM_172106.2:c.2382G>A	NP_742104.1:p.Glu794=
NM_172107.3:c.2436G>A	NP_742105.1:p.Glu812=
NM_172108.4:c.2343G>A	NP_742106.1:p.Glu781=
XM_011528810.2:c.2490G>A	XP_011527112.1:p.Glu830=
XM_011528811.2:c.2460G>A	XP_011527113.1:p.Glu820=
XM_017027841.2:c.2487G>A	XP_016883330.1:p.Glu829=
XM_017027842.2:c.2424G>A	XP_016883331.1:p.Glu808=
XM_017027843.1:c.2421G>A	XP_016883332.1:p.Glu807=
XM_017027844.2:c.2379G>A	XP_016883333.1:p.Glu793=
XM_017027845.1:c.1452G>A	XP_016883334.1:p.Glu484=
NM_004518.6:c.2352G>A	NP_004509.2:p.Glu784=
NM_172106.3:c.2382G>A	NP_742104.1:p.Glu794=
NM_172107.4:c.2436G>A MANE Select	NP_742105.1:p.Glu812=
NM_172108.5:c.2343G>A	NP_742106.1:p.Glu781=
NM_001382235.1:c.2490G>A	NP_001369164.1:p.Glu830=