Canonical Allele Identifier: CA409646054

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62046259C>G (hg19) ; chr20:g.63414906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414906C>G , CM000682.2:g.63414906C>G	GRCh38
NC_000020.10:g.62046259C>G , CM000682.1:g.62046259C>G	GRCh37
NC_000020.9:g.61516703C>G	NCBI36
NG_009004.1:g.62735G>C
NG_009004.2:g.62735G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1468G>C	ENSP00000516702.1:p.Glu490Gln
ENST00000359125.7:c.1522G>C MANE Select	ENSP00000352035.2:p.Glu508Gln
ENST00000637193.1:c.919G>C	ENSP00000490734.1:p.Glu307Gln
ENST00000344462.8:c.1432G>C	ENSP00000339611.4:p.Glu478Gln
ENST00000357249.6:c.1090G>C	ENSP00000349789.3:p.Glu364Gln
ENST00000359125.6:c.1522G>C	ENSP00000352035.2:p.Glu508Gln
ENST00000360480.7:c.1438G>C	ENSP00000353668.3:p.Glu480Gln
ENST00000370224.5:c.1438G>C	ENSP00000359244.2:p.Glu480Gln
ENST00000625514.2:c.1402G>C	ENSP00000486040.1:p.Glu468Gln
ENST00000626839.2:c.1468G>C	ENSP00000486706.1:p.Glu490Gln
ENST00000627221.2:c.582G>C
ENST00000629241.2:c.1438G>C	ENSP00000487142.1:p.Glu480Gln
ENST00000629318.1:c.130G>C	ENSP00000487384.1:p.Glu44Gln
ENST00000629676.2:c.1438G>C	ENSP00000486194.1:p.Glu480Gln
NM_004518.4:c.1438G>C	NP_004509.2:p.Glu480Gln
NM_172106.1:c.1468G>C	NP_742104.1:p.Glu490Gln
NM_172107.2:c.1522G>C	NP_742105.1:p.Glu508Gln
NM_172108.3:c.1432G>C	NP_742106.1:p.Glu478Gln
XM_006723787.1:c.1522G>C	XP_006723850.1:p.Glu508Gln
XM_011528807.1:c.1522G>C	XP_011527109.1:p.Glu508Gln
XM_011528808.1:c.1522G>C	XP_011527110.1:p.Glu508Gln
XM_011528809.1:c.1492G>C	XP_011527111.1:p.Glu498Gln
XM_011528810.1:c.1468G>C	XP_011527112.1:p.Glu490Gln
XM_011528811.1:c.1438G>C	XP_011527113.1:p.Glu480Gln
XM_011528812.1:c.1522G>C	XP_011527114.1:p.Glu508Gln
XM_011528813.1:c.1396G>C	XP_011527115.1:p.Glu466Gln
XM_011528814.1:c.1003G>C	XP_011527116.1:p.Glu335Gln
XM_011528815.1:c.1522G>C	XP_011527117.1:p.Glu508Gln
NM_004518.5:c.1438G>C	NP_004509.2:p.Glu480Gln
NM_172106.2:c.1468G>C	NP_742104.1:p.Glu490Gln
NM_172107.3:c.1522G>C	NP_742105.1:p.Glu508Gln
NM_172108.4:c.1432G>C	NP_742106.1:p.Glu478Gln
XM_011528810.2:c.1468G>C	XP_011527112.1:p.Glu490Gln
XM_011528811.2:c.1438G>C	XP_011527113.1:p.Glu480Gln
XM_017027841.2:c.1468G>C	XP_016883330.1:p.Glu490Gln
XM_017027842.2:c.1468G>C	XP_016883331.1:p.Glu490Gln
XM_017027843.1:c.1399G>C	XP_016883332.1:p.Glu467Gln
XM_017027844.2:c.1468G>C	XP_016883333.1:p.Glu490Gln
XM_017027845.1:c.430G>C	XP_016883334.1:p.Glu144Gln
NM_004518.6:c.1438G>C	NP_004509.2:p.Glu480Gln
NM_172106.3:c.1468G>C	NP_742104.1:p.Glu490Gln
NM_172107.4:c.1522G>C MANE Select	NP_742105.1:p.Glu508Gln
NM_172108.5:c.1432G>C	NP_742106.1:p.Glu478Gln
NM_001382235.1:c.1468G>C	NP_001369164.1:p.Glu490Gln