Canonical Allele Identifier: CA409639165

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038595T>G (hg19) ; chr20:g.63407242T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407242T>G , CM000682.2:g.63407242T>G	GRCh38
NC_000020.10:g.62038595T>G , CM000682.1:g.62038595T>G	GRCh37
NC_000020.9:g.61509039T>G	NCBI36
NG_009004.1:g.70399A>C
NG_009004.2:g.70399A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2075A>C	ENSP00000516702.1:p.Glu692Ala
ENST00000359125.7:c.2021A>C MANE Select	ENSP00000352035.2:p.Glu674Ala
ENST00000637193.1:c.1418A>C	ENSP00000490734.1:p.Glu473Ala
ENST00000344462.8:c.1928A>C	ENSP00000339611.4:p.Glu643Ala
ENST00000357249.6:c.1589A>C	ENSP00000349789.3:p.Glu530Ala
ENST00000359125.6:c.2021A>C	ENSP00000352035.2:p.Glu674Ala
ENST00000360480.7:c.1937A>C	ENSP00000353668.3:p.Glu646Ala
ENST00000370224.5:c.2045A>C	ENSP00000359244.2:p.Glu682Ala
ENST00000625514.2:c.2009A>C	ENSP00000486040.1:p.Glu670Ala
ENST00000626839.2:c.1967A>C	ENSP00000486706.1:p.Glu656Ala
ENST00000629241.2:c.1937A>C	ENSP00000487142.1:p.Glu646Ala
ENST00000629676.2:c.1679+6208A>C	ENSP00000486194.1:n.1679+6208A>C
NM_004518.4:c.1937A>C	NP_004509.2:p.Glu646Ala
NM_172106.1:c.1967A>C	NP_742104.1:p.Glu656Ala
NM_172107.2:c.2021A>C	NP_742105.1:p.Glu674Ala
NM_172108.3:c.1928A>C	NP_742106.1:p.Glu643Ala
XM_006723787.1:c.2063A>C	XP_006723850.1:p.Glu688Ala
XM_011528807.1:c.2129A>C	XP_011527109.1:p.Glu710Ala
XM_011528808.1:c.2126A>C	XP_011527110.1:p.Glu709Ala
XM_011528809.1:c.2099A>C	XP_011527111.1:p.Glu700Ala
XM_011528810.1:c.2075A>C	XP_011527112.1:p.Glu692Ala
XM_011528811.1:c.2045A>C	XP_011527113.1:p.Glu682Ala
XM_011528812.1:c.2018A>C	XP_011527114.1:p.Glu673Ala
XM_011528813.1:c.2003A>C	XP_011527115.1:p.Glu668Ala
XM_011528814.1:c.1610A>C	XP_011527116.1:p.Glu537Ala
NM_004518.5:c.1937A>C	NP_004509.2:p.Glu646Ala
NM_172106.2:c.1967A>C	NP_742104.1:p.Glu656Ala
NM_172107.3:c.2021A>C	NP_742105.1:p.Glu674Ala
NM_172108.4:c.1928A>C	NP_742106.1:p.Glu643Ala
XM_011528810.2:c.2075A>C	XP_011527112.1:p.Glu692Ala
XM_011528811.2:c.2045A>C	XP_011527113.1:p.Glu682Ala
XM_017027841.2:c.2072A>C	XP_016883330.1:p.Glu691Ala
XM_017027842.2:c.2009A>C	XP_016883331.1:p.Glu670Ala
XM_017027843.1:c.2006A>C	XP_016883332.1:p.Glu669Ala
XM_017027844.2:c.1964A>C	XP_016883333.1:p.Glu655Ala
XM_017027845.1:c.1037A>C	XP_016883334.1:p.Glu346Ala
NM_004518.6:c.1937A>C	NP_004509.2:p.Glu646Ala
NM_172106.3:c.1967A>C	NP_742104.1:p.Glu656Ala
NM_172107.4:c.2021A>C MANE Select	NP_742105.1:p.Glu674Ala
NM_172108.5:c.1928A>C	NP_742106.1:p.Glu643Ala
NM_001382235.1:c.2075A>C	NP_001369164.1:p.Glu692Ala