Canonical Allele Identifier: CA511339304

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038504G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407151G>C , CM000682.2:g.63407151G>C	GRCh38
NC_000020.10:g.62038504G>C , CM000682.1:g.62038504G>C	GRCh37
NC_000020.9:g.61508948G>C	NCBI36
NG_009004.1:g.70490C>G
NG_009004.2:g.70490C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2166C>G	ENSP00000516702.1:p.Pro722=
ENST00000359125.7:c.2112C>G MANE Select	ENSP00000352035.2:p.Pro704=
ENST00000637193.1:c.1509C>G	ENSP00000490734.1:p.Pro503=
ENST00000344462.8:c.2019C>G	ENSP00000339611.4:p.Pro673=
ENST00000357249.6:c.1680C>G	ENSP00000349789.3:p.Pro560=
ENST00000359125.6:c.2112C>G	ENSP00000352035.2:p.Pro704=
ENST00000360480.7:c.2028C>G	ENSP00000353668.3:p.Pro676=
ENST00000370224.5:c.2136C>G	ENSP00000359244.2:p.Pro712=
ENST00000625514.2:c.2100C>G	ENSP00000486040.1:p.Pro700=
ENST00000626839.2:c.2058C>G	ENSP00000486706.1:p.Pro686=
ENST00000629241.2:c.2028C>G	ENSP00000487142.1:p.Pro676=
ENST00000629676.2:c.1679+6299C>G	ENSP00000486194.1:n.1679+6299C>G
NM_004518.4:c.2028C>G	NP_004509.2:p.Pro676=
NM_172106.1:c.2058C>G	NP_742104.1:p.Pro686=
NM_172107.2:c.2112C>G	NP_742105.1:p.Pro704=
NM_172108.3:c.2019C>G	NP_742106.1:p.Pro673=
XM_006723787.1:c.2154C>G	XP_006723850.1:p.Pro718=
XM_011528807.1:c.2220C>G	XP_011527109.1:p.Pro740=
XM_011528808.1:c.2217C>G	XP_011527110.1:p.Pro739=
XM_011528809.1:c.2190C>G	XP_011527111.1:p.Pro730=
XM_011528810.1:c.2166C>G	XP_011527112.1:p.Pro722=
XM_011528811.1:c.2136C>G	XP_011527113.1:p.Pro712=
XM_011528812.1:c.2109C>G	XP_011527114.1:p.Pro703=
XM_011528813.1:c.2094C>G	XP_011527115.1:p.Pro698=
XM_011528814.1:c.1701C>G	XP_011527116.1:p.Pro567=
NM_004518.5:c.2028C>G	NP_004509.2:p.Pro676=
NM_172106.2:c.2058C>G	NP_742104.1:p.Pro686=
NM_172107.3:c.2112C>G	NP_742105.1:p.Pro704=
NM_172108.4:c.2019C>G	NP_742106.1:p.Pro673=
XM_011528810.2:c.2166C>G	XP_011527112.1:p.Pro722=
XM_011528811.2:c.2136C>G	XP_011527113.1:p.Pro712=
XM_017027841.2:c.2163C>G	XP_016883330.1:p.Pro721=
XM_017027842.2:c.2100C>G	XP_016883331.1:p.Pro700=
XM_017027843.1:c.2097C>G	XP_016883332.1:p.Pro699=
XM_017027844.2:c.2055C>G	XP_016883333.1:p.Pro685=
XM_017027845.1:c.1128C>G	XP_016883334.1:p.Pro376=
NM_004518.6:c.2028C>G	NP_004509.2:p.Pro676=
NM_172106.3:c.2058C>G	NP_742104.1:p.Pro686=
NM_172107.4:c.2112C>G MANE Select	NP_742105.1:p.Pro704=
NM_172108.5:c.2019C>G	NP_742106.1:p.Pro673=
NM_001382235.1:c.2166C>G	NP_001369164.1:p.Pro722=