Canonical Allele Identifier: CA409637083

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038180C>A (hg19) ; chr20:g.63406827C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2490G>T	ENSP00000516702.1:p.Glu830Asp
ENST00000359125.7:c.2436G>T MANE Select	ENSP00000352035.2:p.Glu812Asp
ENST00000637193.1:c.1833G>T	ENSP00000490734.1:p.Glu611Asp
ENST00000344462.8:c.2343G>T	ENSP00000339611.4:p.Glu781Asp
ENST00000357249.6:c.2004G>T	ENSP00000349789.3:p.Glu668Asp
ENST00000359125.6:c.2436G>T	ENSP00000352035.2:p.Glu812Asp
ENST00000360480.7:c.2352G>T	ENSP00000353668.3:p.Glu784Asp
ENST00000370224.5:c.2241+219G>T	ENSP00000359244.2:n.2241+219G>T
ENST00000625514.2:c.2205+219G>T	ENSP00000486040.1:n.2205+219G>T
ENST00000626839.2:c.2382G>T	ENSP00000486706.1:p.Glu794Asp
ENST00000629241.2:c.2133+219G>T	ENSP00000487142.1:n.2133+219G>T
ENST00000629676.2:c.1680-5984G>T	ENSP00000486194.1:n.1680-5984G>T
NM_004518.4:c.2352G>T	NP_004509.2:p.Glu784Asp
NM_172106.1:c.2382G>T	NP_742104.1:p.Glu794Asp
NM_172107.2:c.2436G>T	NP_742105.1:p.Glu812Asp
NM_172108.3:c.2343G>T	NP_742106.1:p.Glu781Asp
XM_006723787.1:c.2478G>T	XP_006723850.1:p.Glu826Asp
XM_011528807.1:c.2544G>T	XP_011527109.1:p.Glu848Asp
XM_011528808.1:c.2541G>T	XP_011527110.1:p.Glu847Asp
XM_011528809.1:c.2514G>T	XP_011527111.1:p.Glu838Asp
XM_011528810.1:c.2490G>T	XP_011527112.1:p.Glu830Asp
XM_011528811.1:c.2460G>T	XP_011527113.1:p.Glu820Asp
XM_011528812.1:c.2433G>T	XP_011527114.1:p.Glu811Asp
XM_011528813.1:c.2418G>T	XP_011527115.1:p.Glu806Asp
XM_011528814.1:c.2025G>T	XP_011527116.1:p.Glu675Asp
NM_004518.5:c.2352G>T	NP_004509.2:p.Glu784Asp
NM_172106.2:c.2382G>T	NP_742104.1:p.Glu794Asp
NM_172107.3:c.2436G>T	NP_742105.1:p.Glu812Asp
NM_172108.4:c.2343G>T	NP_742106.1:p.Glu781Asp
XM_011528810.2:c.2490G>T	XP_011527112.1:p.Glu830Asp
XM_011528811.2:c.2460G>T	XP_011527113.1:p.Glu820Asp
XM_017027841.2:c.2487G>T	XP_016883330.1:p.Glu829Asp
XM_017027842.2:c.2424G>T	XP_016883331.1:p.Glu808Asp
XM_017027843.1:c.2421G>T	XP_016883332.1:p.Glu807Asp
XM_017027844.2:c.2379G>T	XP_016883333.1:p.Glu793Asp
XM_017027845.1:c.1452G>T	XP_016883334.1:p.Glu484Asp
NM_004518.6:c.2352G>T	NP_004509.2:p.Glu784Asp
NM_172106.3:c.2382G>T	NP_742104.1:p.Glu794Asp
NM_172107.4:c.2436G>T MANE Select	NP_742105.1:p.Glu812Asp
NM_172108.5:c.2343G>T	NP_742106.1:p.Glu781Asp
NM_001382235.1:c.2490G>T	NP_001369164.1:p.Glu830Asp