Canonical Allele Identifier: CA409639421

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038684G>C (hg19) ; chr20:g.63407331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407331G>C , CM000682.2:g.63407331G>C	GRCh38
NC_000020.10:g.62038684G>C , CM000682.1:g.62038684G>C	GRCh37
NC_000020.9:g.61509128G>C	NCBI36
NG_009004.1:g.70310C>G
NG_009004.2:g.70310C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1986C>G	ENSP00000516702.1:p.Tyr662Ter
ENST00000359125.7:c.1932C>G MANE Select	ENSP00000352035.2:p.Tyr644Ter
ENST00000637193.1:c.1329C>G	ENSP00000490734.1:p.Tyr443Ter
ENST00000637338.1:n.89C>G
ENST00000344462.8:c.1839C>G	ENSP00000339611.4:p.Tyr613Ter
ENST00000357249.6:c.1500C>G	ENSP00000349789.3:p.Tyr500Ter
ENST00000359125.6:c.1932C>G	ENSP00000352035.2:p.Tyr644Ter
ENST00000360480.7:c.1848C>G	ENSP00000353668.3:p.Tyr616Ter
ENST00000370224.5:c.1956C>G	ENSP00000359244.2:p.Tyr652Ter
ENST00000625514.2:c.1920C>G	ENSP00000486040.1:p.Tyr640Ter
ENST00000626839.2:c.1878C>G	ENSP00000486706.1:p.Tyr626Ter
ENST00000629241.2:c.1848C>G	ENSP00000487142.1:p.Tyr616Ter
ENST00000629676.2:c.1679+6119C>G	ENSP00000486194.1:n.1679+6119C>G
NM_004518.4:c.1848C>G	NP_004509.2:p.Tyr616Ter
NM_172106.1:c.1878C>G	NP_742104.1:p.Tyr626Ter
NM_172107.2:c.1932C>G	NP_742105.1:p.Tyr644Ter
NM_172108.3:c.1839C>G	NP_742106.1:p.Tyr613Ter
XM_006723787.1:c.1974C>G	XP_006723850.1:p.Tyr658Ter
XM_011528807.1:c.2040C>G	XP_011527109.1:p.Tyr680Ter
XM_011528808.1:c.2037C>G	XP_011527110.1:p.Tyr679Ter
XM_011528809.1:c.2010C>G	XP_011527111.1:p.Tyr670Ter
XM_011528810.1:c.1986C>G	XP_011527112.1:p.Tyr662Ter
XM_011528811.1:c.1956C>G	XP_011527113.1:p.Tyr652Ter
XM_011528812.1:c.1929C>G	XP_011527114.1:p.Tyr643Ter
XM_011528813.1:c.1914C>G	XP_011527115.1:p.Tyr638Ter
XM_011528814.1:c.1521C>G	XP_011527116.1:p.Tyr507Ter
NM_004518.5:c.1848C>G	NP_004509.2:p.Tyr616Ter
NM_172106.2:c.1878C>G	NP_742104.1:p.Tyr626Ter
NM_172107.3:c.1932C>G	NP_742105.1:p.Tyr644Ter
NM_172108.4:c.1839C>G	NP_742106.1:p.Tyr613Ter
XM_011528810.2:c.1986C>G	XP_011527112.1:p.Tyr662Ter
XM_011528811.2:c.1956C>G	XP_011527113.1:p.Tyr652Ter
XM_017027841.2:c.1983C>G	XP_016883330.1:p.Tyr661Ter
XM_017027842.2:c.1920C>G	XP_016883331.1:p.Tyr640Ter
XM_017027843.1:c.1917C>G	XP_016883332.1:p.Tyr639Ter
XM_017027844.2:c.1875C>G	XP_016883333.1:p.Tyr625Ter
XM_017027845.1:c.948C>G	XP_016883334.1:p.Tyr316Ter
NM_004518.6:c.1848C>G	NP_004509.2:p.Tyr616Ter
NM_172106.3:c.1878C>G	NP_742104.1:p.Tyr626Ter
NM_172107.4:c.1932C>G MANE Select	NP_742105.1:p.Tyr644Ter
NM_172108.5:c.1839C>G	NP_742106.1:p.Tyr613Ter
NM_001382235.1:c.1986C>G	NP_001369164.1:p.Tyr662Ter