Canonical Allele Identifier: CA409639168

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2835258
• ClinVar RCV Id: RCV003754489
• MyVariant Identifiers: chr20:g.62038596C>G (hg19) ; chr20:g.63407243C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407243C>G , CM000682.2:g.63407243C>G	GRCh38
NC_000020.10:g.62038596C>G , CM000682.1:g.62038596C>G	GRCh37
NC_000020.9:g.61509040C>G	NCBI36
NG_009004.1:g.70398G>C
NG_009004.2:g.70398G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2074G>C	ENSP00000516702.1:p.Glu692Gln
ENST00000359125.7:c.2020G>C MANE Select	ENSP00000352035.2:p.Glu674Gln
ENST00000637193.1:c.1417G>C	ENSP00000490734.1:p.Glu473Gln
ENST00000344462.8:c.1927G>C	ENSP00000339611.4:p.Glu643Gln
ENST00000357249.6:c.1588G>C	ENSP00000349789.3:p.Glu530Gln
ENST00000359125.6:c.2020G>C	ENSP00000352035.2:p.Glu674Gln
ENST00000360480.7:c.1936G>C	ENSP00000353668.3:p.Glu646Gln
ENST00000370224.5:c.2044G>C	ENSP00000359244.2:p.Glu682Gln
ENST00000625514.2:c.2008G>C	ENSP00000486040.1:p.Glu670Gln
ENST00000626839.2:c.1966G>C	ENSP00000486706.1:p.Glu656Gln
ENST00000629241.2:c.1936G>C	ENSP00000487142.1:p.Glu646Gln
ENST00000629676.2:c.1679+6207G>C	ENSP00000486194.1:n.1679+6207G>C
NM_004518.4:c.1936G>C	NP_004509.2:p.Glu646Gln
NM_172106.1:c.1966G>C	NP_742104.1:p.Glu656Gln
NM_172107.2:c.2020G>C	NP_742105.1:p.Glu674Gln
NM_172108.3:c.1927G>C	NP_742106.1:p.Glu643Gln
XM_006723787.1:c.2062G>C	XP_006723850.1:p.Glu688Gln
XM_011528807.1:c.2128G>C	XP_011527109.1:p.Glu710Gln
XM_011528808.1:c.2125G>C	XP_011527110.1:p.Glu709Gln
XM_011528809.1:c.2098G>C	XP_011527111.1:p.Glu700Gln
XM_011528810.1:c.2074G>C	XP_011527112.1:p.Glu692Gln
XM_011528811.1:c.2044G>C	XP_011527113.1:p.Glu682Gln
XM_011528812.1:c.2017G>C	XP_011527114.1:p.Glu673Gln
XM_011528813.1:c.2002G>C	XP_011527115.1:p.Glu668Gln
XM_011528814.1:c.1609G>C	XP_011527116.1:p.Glu537Gln
NM_004518.5:c.1936G>C	NP_004509.2:p.Glu646Gln
NM_172106.2:c.1966G>C	NP_742104.1:p.Glu656Gln
NM_172107.3:c.2020G>C	NP_742105.1:p.Glu674Gln
NM_172108.4:c.1927G>C	NP_742106.1:p.Glu643Gln
XM_011528810.2:c.2074G>C	XP_011527112.1:p.Glu692Gln
XM_011528811.2:c.2044G>C	XP_011527113.1:p.Glu682Gln
XM_017027841.2:c.2071G>C	XP_016883330.1:p.Glu691Gln
XM_017027842.2:c.2008G>C	XP_016883331.1:p.Glu670Gln
XM_017027843.1:c.2005G>C	XP_016883332.1:p.Glu669Gln
XM_017027844.2:c.1963G>C	XP_016883333.1:p.Glu655Gln
XM_017027845.1:c.1036G>C	XP_016883334.1:p.Glu346Gln
NM_004518.6:c.1936G>C	NP_004509.2:p.Glu646Gln
NM_172106.3:c.1966G>C	NP_742104.1:p.Glu656Gln
NM_172107.4:c.2020G>C MANE Select	NP_742105.1:p.Glu674Gln
NM_172108.5:c.1927G>C	NP_742106.1:p.Glu643Gln
NM_001382235.1:c.2074G>C	NP_001369164.1:p.Glu692Gln