Canonical Allele Identifier: CA9958143

Gene: KCNQ2

Linked Data

• dbSNP Id: rs753033741
• ExAC: 20:62038496 G / C
• gnomAD v2: 20-62038496-G-C
• gnomAD v4: 20-63407143-G-C
• MyVariant Identifiers: chr20:g.62038496G>C (hg19) ; chr20:g.63407143G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407143G>C , CM000682.2:g.63407143G>C	GRCh38
NC_000020.10:g.62038496G>C , CM000682.1:g.62038496G>C	GRCh37
NC_000020.9:g.61508940G>C	NCBI36
NG_009004.1:g.70498C>G
NG_009004.2:g.70498C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2174C>G	ENSP00000516702.1:p.Ala725Gly
ENST00000359125.7:c.2120C>G MANE Select	ENSP00000352035.2:p.Ala707Gly
ENST00000637193.1:c.1517C>G	ENSP00000490734.1:p.Ala506Gly
ENST00000344462.8:c.2027C>G	ENSP00000339611.4:p.Ala676Gly
ENST00000357249.6:c.1688C>G	ENSP00000349789.3:p.Ala563Gly
ENST00000359125.6:c.2120C>G	ENSP00000352035.2:p.Ala707Gly
ENST00000360480.7:c.2036C>G	ENSP00000353668.3:p.Ala679Gly
ENST00000370224.5:c.2144C>G	ENSP00000359244.2:p.Ala715Gly
ENST00000625514.2:c.2108C>G	ENSP00000486040.1:p.Ala703Gly
ENST00000626839.2:c.2066C>G	ENSP00000486706.1:p.Ala689Gly
ENST00000629241.2:c.2036C>G	ENSP00000487142.1:p.Ala679Gly
ENST00000629676.2:c.1680-6300C>G	ENSP00000486194.1:n.1680-6300C>G
NM_004518.4:c.2036C>G	NP_004509.2:p.Ala679Gly
NM_172106.1:c.2066C>G	NP_742104.1:p.Ala689Gly
NM_172107.2:c.2120C>G	NP_742105.1:p.Ala707Gly
NM_172108.3:c.2027C>G	NP_742106.1:p.Ala676Gly
XM_006723787.1:c.2162C>G	XP_006723850.1:p.Ala721Gly
XM_011528807.1:c.2228C>G	XP_011527109.1:p.Ala743Gly
XM_011528808.1:c.2225C>G	XP_011527110.1:p.Ala742Gly
XM_011528809.1:c.2198C>G	XP_011527111.1:p.Ala733Gly
XM_011528810.1:c.2174C>G	XP_011527112.1:p.Ala725Gly
XM_011528811.1:c.2144C>G	XP_011527113.1:p.Ala715Gly
XM_011528812.1:c.2117C>G	XP_011527114.1:p.Ala706Gly
XM_011528813.1:c.2102C>G	XP_011527115.1:p.Ala701Gly
XM_011528814.1:c.1709C>G	XP_011527116.1:p.Ala570Gly
NM_004518.5:c.2036C>G	NP_004509.2:p.Ala679Gly
NM_172106.2:c.2066C>G	NP_742104.1:p.Ala689Gly
NM_172107.3:c.2120C>G	NP_742105.1:p.Ala707Gly
NM_172108.4:c.2027C>G	NP_742106.1:p.Ala676Gly
XM_011528810.2:c.2174C>G	XP_011527112.1:p.Ala725Gly
XM_011528811.2:c.2144C>G	XP_011527113.1:p.Ala715Gly
XM_017027841.2:c.2171C>G	XP_016883330.1:p.Ala724Gly
XM_017027842.2:c.2108C>G	XP_016883331.1:p.Ala703Gly
XM_017027843.1:c.2105C>G	XP_016883332.1:p.Ala702Gly
XM_017027844.2:c.2063C>G	XP_016883333.1:p.Ala688Gly
XM_017027845.1:c.1136C>G	XP_016883334.1:p.Ala379Gly
NM_004518.6:c.2036C>G	NP_004509.2:p.Ala679Gly
NM_172106.3:c.2066C>G	NP_742104.1:p.Ala689Gly
NM_172107.4:c.2120C>G MANE Select	NP_742105.1:p.Ala707Gly
NM_172108.5:c.2027C>G	NP_742106.1:p.Ala676Gly
NM_001382235.1:c.2174C>G	NP_001369164.1:p.Ala725Gly