Canonical Allele Identifier: CA409640272

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62039801T>A (hg19) ; chr20:g.63408448T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63408448T>A , CM000682.2:g.63408448T>A	GRCh38
NC_000020.10:g.62039801T>A , CM000682.1:g.62039801T>A	GRCh37
NC_000020.9:g.61510245T>A	NCBI36
NG_009004.1:g.69193A>T
NG_009004.2:g.69193A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1906A>T	ENSP00000516702.1:p.Ser636Cys
ENST00000359125.7:c.1852A>T MANE Select	ENSP00000352035.2:p.Ser618Cys
ENST00000637063.1:n.37A>T
ENST00000637193.1:c.1249A>T	ENSP00000490734.1:p.Ser417Cys
ENST00000637656.1:n.8A>T
ENST00000344462.8:c.1759A>T	ENSP00000339611.4:p.Ser587Cys
ENST00000357249.6:c.1420A>T	ENSP00000349789.3:p.Ser474Cys
ENST00000359125.6:c.1852A>T	ENSP00000352035.2:p.Ser618Cys
ENST00000360480.7:c.1768A>T	ENSP00000353668.3:p.Ser590Cys
ENST00000370224.5:c.1876A>T	ENSP00000359244.2:p.Ser626Cys
ENST00000625514.2:c.1840A>T	ENSP00000486040.1:p.Ser614Cys
ENST00000626839.2:c.1798A>T	ENSP00000486706.1:p.Ser600Cys
ENST00000629241.2:c.1768A>T	ENSP00000487142.1:p.Ser590Cys
ENST00000629676.2:c.1679+5002A>T	ENSP00000486194.1:n.1679+5002A>T
NM_004518.4:c.1768A>T	NP_004509.2:p.Ser590Cys
NM_172106.1:c.1798A>T	NP_742104.1:p.Ser600Cys
NM_172107.2:c.1852A>T	NP_742105.1:p.Ser618Cys
NM_172108.3:c.1759A>T	NP_742106.1:p.Ser587Cys
XM_006723787.1:c.1894A>T	XP_006723850.1:p.Ser632Cys
XM_011528807.1:c.1960A>T	XP_011527109.1:p.Ser654Cys
XM_011528808.1:c.1957A>T	XP_011527110.1:p.Ser653Cys
XM_011528809.1:c.1930A>T	XP_011527111.1:p.Ser644Cys
XM_011528810.1:c.1906A>T	XP_011527112.1:p.Ser636Cys
XM_011528811.1:c.1876A>T	XP_011527113.1:p.Ser626Cys
XM_011528812.1:c.1849A>T	XP_011527114.1:p.Ser617Cys
XM_011528813.1:c.1834A>T	XP_011527115.1:p.Ser612Cys
XM_011528814.1:c.1441A>T	XP_011527116.1:p.Ser481Cys
XM_011528815.1:c.1960A>T	XP_011527117.1:p.Ser654Cys
NM_004518.5:c.1768A>T	NP_004509.2:p.Ser590Cys
NM_172106.2:c.1798A>T	NP_742104.1:p.Ser600Cys
NM_172107.3:c.1852A>T	NP_742105.1:p.Ser618Cys
NM_172108.4:c.1759A>T	NP_742106.1:p.Ser587Cys
XM_011528810.2:c.1906A>T	XP_011527112.1:p.Ser636Cys
XM_011528811.2:c.1876A>T	XP_011527113.1:p.Ser626Cys
XM_017027841.2:c.1903A>T	XP_016883330.1:p.Ser635Cys
XM_017027842.2:c.1840A>T	XP_016883331.1:p.Ser614Cys
XM_017027843.1:c.1837A>T	XP_016883332.1:p.Ser613Cys
XM_017027844.2:c.1795A>T	XP_016883333.1:p.Ser599Cys
XM_017027845.1:c.868A>T	XP_016883334.1:p.Ser290Cys
NM_004518.6:c.1768A>T	NP_004509.2:p.Ser590Cys
NM_172106.3:c.1798A>T	NP_742104.1:p.Ser600Cys
NM_172107.4:c.1852A>T MANE Select	NP_742105.1:p.Ser618Cys
NM_172108.5:c.1759A>T	NP_742106.1:p.Ser587Cys
NM_001382235.1:c.1906A>T	NP_001369164.1:p.Ser636Cys