Canonical Allele Identifier: CA409639414

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038682A>T (hg19) ; chr20:g.63407329A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407329A>T , CM000682.2:g.63407329A>T	GRCh38
NC_000020.10:g.62038682A>T , CM000682.1:g.62038682A>T	GRCh37
NC_000020.9:g.61509126A>T	NCBI36
NG_009004.1:g.70312T>A
NG_009004.2:g.70312T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1988T>A	ENSP00000516702.1:p.Met663Lys
ENST00000359125.7:c.1934T>A MANE Select	ENSP00000352035.2:p.Met645Lys
ENST00000637193.1:c.1331T>A	ENSP00000490734.1:p.Met444Lys
ENST00000637338.1:n.91T>A
ENST00000344462.8:c.1841T>A	ENSP00000339611.4:p.Met614Lys
ENST00000357249.6:c.1502T>A	ENSP00000349789.3:p.Met501Lys
ENST00000359125.6:c.1934T>A	ENSP00000352035.2:p.Met645Lys
ENST00000360480.7:c.1850T>A	ENSP00000353668.3:p.Met617Lys
ENST00000370224.5:c.1958T>A	ENSP00000359244.2:p.Met653Lys
ENST00000625514.2:c.1922T>A	ENSP00000486040.1:p.Met641Lys
ENST00000626839.2:c.1880T>A	ENSP00000486706.1:p.Met627Lys
ENST00000629241.2:c.1850T>A	ENSP00000487142.1:p.Met617Lys
ENST00000629676.2:c.1679+6121T>A	ENSP00000486194.1:n.1679+6121T>A
NM_004518.4:c.1850T>A	NP_004509.2:p.Met617Lys
NM_172106.1:c.1880T>A	NP_742104.1:p.Met627Lys
NM_172107.2:c.1934T>A	NP_742105.1:p.Met645Lys
NM_172108.3:c.1841T>A	NP_742106.1:p.Met614Lys
XM_006723787.1:c.1976T>A	XP_006723850.1:p.Met659Lys
XM_011528807.1:c.2042T>A	XP_011527109.1:p.Met681Lys
XM_011528808.1:c.2039T>A	XP_011527110.1:p.Met680Lys
XM_011528809.1:c.2012T>A	XP_011527111.1:p.Met671Lys
XM_011528810.1:c.1988T>A	XP_011527112.1:p.Met663Lys
XM_011528811.1:c.1958T>A	XP_011527113.1:p.Met653Lys
XM_011528812.1:c.1931T>A	XP_011527114.1:p.Met644Lys
XM_011528813.1:c.1916T>A	XP_011527115.1:p.Met639Lys
XM_011528814.1:c.1523T>A	XP_011527116.1:p.Met508Lys
NM_004518.5:c.1850T>A	NP_004509.2:p.Met617Lys
NM_172106.2:c.1880T>A	NP_742104.1:p.Met627Lys
NM_172107.3:c.1934T>A	NP_742105.1:p.Met645Lys
NM_172108.4:c.1841T>A	NP_742106.1:p.Met614Lys
XM_011528810.2:c.1988T>A	XP_011527112.1:p.Met663Lys
XM_011528811.2:c.1958T>A	XP_011527113.1:p.Met653Lys
XM_017027841.2:c.1985T>A	XP_016883330.1:p.Met662Lys
XM_017027842.2:c.1922T>A	XP_016883331.1:p.Met641Lys
XM_017027843.1:c.1919T>A	XP_016883332.1:p.Met640Lys
XM_017027844.2:c.1877T>A	XP_016883333.1:p.Met626Lys
XM_017027845.1:c.950T>A	XP_016883334.1:p.Met317Lys
NM_004518.6:c.1850T>A	NP_004509.2:p.Met617Lys
NM_172106.3:c.1880T>A	NP_742104.1:p.Met627Lys
NM_172107.4:c.1934T>A MANE Select	NP_742105.1:p.Met645Lys
NM_172108.5:c.1841T>A	NP_742106.1:p.Met614Lys
NM_001382235.1:c.1988T>A	NP_001369164.1:p.Met663Lys