Canonical Allele Identifier: CA511339338

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038522C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407169C>T , CM000682.2:g.63407169C>T	GRCh38
NC_000020.10:g.62038522C>T , CM000682.1:g.62038522C>T	GRCh37
NC_000020.9:g.61508966C>T	NCBI36
NG_009004.1:g.70472G>A
NG_009004.2:g.70472G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2148G>A	ENSP00000516702.1:p.Gln716=
ENST00000359125.7:c.2094G>A MANE Select	ENSP00000352035.2:p.Gln698=
ENST00000637193.1:c.1491G>A	ENSP00000490734.1:p.Gln497=
ENST00000344462.8:c.2001G>A	ENSP00000339611.4:p.Gln667=
ENST00000357249.6:c.1662G>A	ENSP00000349789.3:p.Gln554=
ENST00000359125.6:c.2094G>A	ENSP00000352035.2:p.Gln698=
ENST00000360480.7:c.2010G>A	ENSP00000353668.3:p.Gln670=
ENST00000370224.5:c.2118G>A	ENSP00000359244.2:p.Gln706=
ENST00000625514.2:c.2082G>A	ENSP00000486040.1:p.Gln694=
ENST00000626839.2:c.2040G>A	ENSP00000486706.1:p.Gln680=
ENST00000629241.2:c.2010G>A	ENSP00000487142.1:p.Gln670=
ENST00000629676.2:c.1679+6281G>A	ENSP00000486194.1:n.1679+6281G>A
NM_004518.4:c.2010G>A	NP_004509.2:p.Gln670=
NM_172106.1:c.2040G>A	NP_742104.1:p.Gln680=
NM_172107.2:c.2094G>A	NP_742105.1:p.Gln698=
NM_172108.3:c.2001G>A	NP_742106.1:p.Gln667=
XM_006723787.1:c.2136G>A	XP_006723850.1:p.Gln712=
XM_011528807.1:c.2202G>A	XP_011527109.1:p.Gln734=
XM_011528808.1:c.2199G>A	XP_011527110.1:p.Gln733=
XM_011528809.1:c.2172G>A	XP_011527111.1:p.Gln724=
XM_011528810.1:c.2148G>A	XP_011527112.1:p.Gln716=
XM_011528811.1:c.2118G>A	XP_011527113.1:p.Gln706=
XM_011528812.1:c.2091G>A	XP_011527114.1:p.Gln697=
XM_011528813.1:c.2076G>A	XP_011527115.1:p.Gln692=
XM_011528814.1:c.1683G>A	XP_011527116.1:p.Gln561=
NM_004518.5:c.2010G>A	NP_004509.2:p.Gln670=
NM_172106.2:c.2040G>A	NP_742104.1:p.Gln680=
NM_172107.3:c.2094G>A	NP_742105.1:p.Gln698=
NM_172108.4:c.2001G>A	NP_742106.1:p.Gln667=
XM_011528810.2:c.2148G>A	XP_011527112.1:p.Gln716=
XM_011528811.2:c.2118G>A	XP_011527113.1:p.Gln706=
XM_017027841.2:c.2145G>A	XP_016883330.1:p.Gln715=
XM_017027842.2:c.2082G>A	XP_016883331.1:p.Gln694=
XM_017027843.1:c.2079G>A	XP_016883332.1:p.Gln693=
XM_017027844.2:c.2037G>A	XP_016883333.1:p.Gln679=
XM_017027845.1:c.1110G>A	XP_016883334.1:p.Gln370=
NM_004518.6:c.2010G>A	NP_004509.2:p.Gln670=
NM_172106.3:c.2040G>A	NP_742104.1:p.Gln680=
NM_172107.4:c.2094G>A MANE Select	NP_742105.1:p.Gln698=
NM_172108.5:c.2001G>A	NP_742106.1:p.Gln667=
NM_001382235.1:c.2148G>A	NP_001369164.1:p.Gln716=