Canonical Allele Identifier: CA409639017

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407174-C-A
• MyVariant Identifiers: chr20:g.62038527C>A (hg19) ; chr20:g.63407174C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407174C>A , CM000682.2:g.63407174C>A	GRCh38
NC_000020.10:g.62038527C>A , CM000682.1:g.62038527C>A	GRCh37
NC_000020.9:g.61508971C>A	NCBI36
NG_009004.1:g.70467G>T
NG_009004.2:g.70467G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2143G>T	ENSP00000516702.1:p.Gly715Cys
ENST00000359125.7:c.2089G>T MANE Select	ENSP00000352035.2:p.Gly697Cys
ENST00000637193.1:c.1486G>T	ENSP00000490734.1:p.Gly496Cys
ENST00000344462.8:c.1996G>T	ENSP00000339611.4:p.Gly666Cys
ENST00000357249.6:c.1657G>T	ENSP00000349789.3:p.Gly553Cys
ENST00000359125.6:c.2089G>T	ENSP00000352035.2:p.Gly697Cys
ENST00000360480.7:c.2005G>T	ENSP00000353668.3:p.Gly669Cys
ENST00000370224.5:c.2113G>T	ENSP00000359244.2:p.Gly705Cys
ENST00000625514.2:c.2077G>T	ENSP00000486040.1:p.Gly693Cys
ENST00000626839.2:c.2035G>T	ENSP00000486706.1:p.Gly679Cys
ENST00000629241.2:c.2005G>T	ENSP00000487142.1:p.Gly669Cys
ENST00000629676.2:c.1679+6276G>T	ENSP00000486194.1:n.1679+6276G>T
NM_004518.4:c.2005G>T	NP_004509.2:p.Gly669Cys
NM_172106.1:c.2035G>T	NP_742104.1:p.Gly679Cys
NM_172107.2:c.2089G>T	NP_742105.1:p.Gly697Cys
NM_172108.3:c.1996G>T	NP_742106.1:p.Gly666Cys
XM_006723787.1:c.2131G>T	XP_006723850.1:p.Gly711Cys
XM_011528807.1:c.2197G>T	XP_011527109.1:p.Gly733Cys
XM_011528808.1:c.2194G>T	XP_011527110.1:p.Gly732Cys
XM_011528809.1:c.2167G>T	XP_011527111.1:p.Gly723Cys
XM_011528810.1:c.2143G>T	XP_011527112.1:p.Gly715Cys
XM_011528811.1:c.2113G>T	XP_011527113.1:p.Gly705Cys
XM_011528812.1:c.2086G>T	XP_011527114.1:p.Gly696Cys
XM_011528813.1:c.2071G>T	XP_011527115.1:p.Gly691Cys
XM_011528814.1:c.1678G>T	XP_011527116.1:p.Gly560Cys
NM_004518.5:c.2005G>T	NP_004509.2:p.Gly669Cys
NM_172106.2:c.2035G>T	NP_742104.1:p.Gly679Cys
NM_172107.3:c.2089G>T	NP_742105.1:p.Gly697Cys
NM_172108.4:c.1996G>T	NP_742106.1:p.Gly666Cys
XM_011528810.2:c.2143G>T	XP_011527112.1:p.Gly715Cys
XM_011528811.2:c.2113G>T	XP_011527113.1:p.Gly705Cys
XM_017027841.2:c.2140G>T	XP_016883330.1:p.Gly714Cys
XM_017027842.2:c.2077G>T	XP_016883331.1:p.Gly693Cys
XM_017027843.1:c.2074G>T	XP_016883332.1:p.Gly692Cys
XM_017027844.2:c.2032G>T	XP_016883333.1:p.Gly678Cys
XM_017027845.1:c.1105G>T	XP_016883334.1:p.Gly369Cys
NM_004518.6:c.2005G>T	NP_004509.2:p.Gly669Cys
NM_172106.3:c.2035G>T	NP_742104.1:p.Gly679Cys
NM_172107.4:c.2089G>T MANE Select	NP_742105.1:p.Gly697Cys
NM_172108.5:c.1996G>T	NP_742106.1:p.Gly666Cys
NM_001382235.1:c.2143G>T	NP_001369164.1:p.Gly715Cys