Canonical Allele Identifier: CA409639237

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407276-C-A
• MyVariant Identifiers: chr20:g.62038629C>A (hg19) ; chr20:g.63407276C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407276C>A , CM000682.2:g.63407276C>A	GRCh38
NC_000020.10:g.62038629C>A , CM000682.1:g.62038629C>A	GRCh37
NC_000020.9:g.61509073C>A	NCBI36
NG_009004.1:g.70365G>T
NG_009004.2:g.70365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2041G>T	ENSP00000516702.1:p.Glu681Ter
ENST00000359125.7:c.1987G>T MANE Select	ENSP00000352035.2:p.Glu663Ter
ENST00000637193.1:c.1384G>T	ENSP00000490734.1:p.Glu462Ter
ENST00000344462.8:c.1894G>T	ENSP00000339611.4:p.Glu632Ter
ENST00000357249.6:c.1555G>T	ENSP00000349789.3:p.Glu519Ter
ENST00000359125.6:c.1987G>T	ENSP00000352035.2:p.Glu663Ter
ENST00000360480.7:c.1903G>T	ENSP00000353668.3:p.Glu635Ter
ENST00000370224.5:c.2011G>T	ENSP00000359244.2:p.Glu671Ter
ENST00000625514.2:c.1975G>T	ENSP00000486040.1:p.Glu659Ter
ENST00000626839.2:c.1933G>T	ENSP00000486706.1:p.Glu645Ter
ENST00000629241.2:c.1903G>T	ENSP00000487142.1:p.Glu635Ter
ENST00000629676.2:c.1679+6174G>T	ENSP00000486194.1:n.1679+6174G>T
NM_004518.4:c.1903G>T	NP_004509.2:p.Glu635Ter
NM_172106.1:c.1933G>T	NP_742104.1:p.Glu645Ter
NM_172107.2:c.1987G>T	NP_742105.1:p.Glu663Ter
NM_172108.3:c.1894G>T	NP_742106.1:p.Glu632Ter
XM_006723787.1:c.2029G>T	XP_006723850.1:p.Glu677Ter
XM_011528807.1:c.2095G>T	XP_011527109.1:p.Glu699Ter
XM_011528808.1:c.2092G>T	XP_011527110.1:p.Glu698Ter
XM_011528809.1:c.2065G>T	XP_011527111.1:p.Glu689Ter
XM_011528810.1:c.2041G>T	XP_011527112.1:p.Glu681Ter
XM_011528811.1:c.2011G>T	XP_011527113.1:p.Glu671Ter
XM_011528812.1:c.1984G>T	XP_011527114.1:p.Glu662Ter
XM_011528813.1:c.1969G>T	XP_011527115.1:p.Glu657Ter
XM_011528814.1:c.1576G>T	XP_011527116.1:p.Glu526Ter
NM_004518.5:c.1903G>T	NP_004509.2:p.Glu635Ter
NM_172106.2:c.1933G>T	NP_742104.1:p.Glu645Ter
NM_172107.3:c.1987G>T	NP_742105.1:p.Glu663Ter
NM_172108.4:c.1894G>T	NP_742106.1:p.Glu632Ter
XM_011528810.2:c.2041G>T	XP_011527112.1:p.Glu681Ter
XM_011528811.2:c.2011G>T	XP_011527113.1:p.Glu671Ter
XM_017027841.2:c.2038G>T	XP_016883330.1:p.Glu680Ter
XM_017027842.2:c.1975G>T	XP_016883331.1:p.Glu659Ter
XM_017027843.1:c.1972G>T	XP_016883332.1:p.Glu658Ter
XM_017027844.2:c.1930G>T	XP_016883333.1:p.Glu644Ter
XM_017027845.1:c.1003G>T	XP_016883334.1:p.Glu335Ter
NM_004518.6:c.1903G>T	NP_004509.2:p.Glu635Ter
NM_172106.3:c.1933G>T	NP_742104.1:p.Glu645Ter
NM_172107.4:c.1987G>T MANE Select	NP_742105.1:p.Glu663Ter
NM_172108.5:c.1894G>T	NP_742106.1:p.Glu632Ter
NM_001382235.1:c.2041G>T	NP_001369164.1:p.Glu681Ter