Canonical Allele Identifier: CA409639082

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038559A>C (hg19) ; chr20:g.63407206A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407206A>C , CM000682.2:g.63407206A>C	GRCh38
NC_000020.10:g.62038559A>C , CM000682.1:g.62038559A>C	GRCh37
NC_000020.9:g.61509003A>C	NCBI36
NG_009004.1:g.70435T>G
NG_009004.2:g.70435T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2111T>G	ENSP00000516702.1:p.Ile704Ser
ENST00000359125.7:c.2057T>G MANE Select	ENSP00000352035.2:p.Ile686Ser
ENST00000637193.1:c.1454T>G	ENSP00000490734.1:p.Ile485Ser
ENST00000344462.8:c.1964T>G	ENSP00000339611.4:p.Ile655Ser
ENST00000357249.6:c.1625T>G	ENSP00000349789.3:p.Ile542Ser
ENST00000359125.6:c.2057T>G	ENSP00000352035.2:p.Ile686Ser
ENST00000360480.7:c.1973T>G	ENSP00000353668.3:p.Ile658Ser
ENST00000370224.5:c.2081T>G	ENSP00000359244.2:p.Ile694Ser
ENST00000625514.2:c.2045T>G	ENSP00000486040.1:p.Ile682Ser
ENST00000626839.2:c.2003T>G	ENSP00000486706.1:p.Ile668Ser
ENST00000629241.2:c.1973T>G	ENSP00000487142.1:p.Ile658Ser
ENST00000629676.2:c.1679+6244T>G	ENSP00000486194.1:n.1679+6244T>G
NM_004518.4:c.1973T>G	NP_004509.2:p.Ile658Ser
NM_172106.1:c.2003T>G	NP_742104.1:p.Ile668Ser
NM_172107.2:c.2057T>G	NP_742105.1:p.Ile686Ser
NM_172108.3:c.1964T>G	NP_742106.1:p.Ile655Ser
XM_006723787.1:c.2099T>G	XP_006723850.1:p.Ile700Ser
XM_011528807.1:c.2165T>G	XP_011527109.1:p.Ile722Ser
XM_011528808.1:c.2162T>G	XP_011527110.1:p.Ile721Ser
XM_011528809.1:c.2135T>G	XP_011527111.1:p.Ile712Ser
XM_011528810.1:c.2111T>G	XP_011527112.1:p.Ile704Ser
XM_011528811.1:c.2081T>G	XP_011527113.1:p.Ile694Ser
XM_011528812.1:c.2054T>G	XP_011527114.1:p.Ile685Ser
XM_011528813.1:c.2039T>G	XP_011527115.1:p.Ile680Ser
XM_011528814.1:c.1646T>G	XP_011527116.1:p.Ile549Ser
NM_004518.5:c.1973T>G	NP_004509.2:p.Ile658Ser
NM_172106.2:c.2003T>G	NP_742104.1:p.Ile668Ser
NM_172107.3:c.2057T>G	NP_742105.1:p.Ile686Ser
NM_172108.4:c.1964T>G	NP_742106.1:p.Ile655Ser
XM_011528810.2:c.2111T>G	XP_011527112.1:p.Ile704Ser
XM_011528811.2:c.2081T>G	XP_011527113.1:p.Ile694Ser
XM_017027841.2:c.2108T>G	XP_016883330.1:p.Ile703Ser
XM_017027842.2:c.2045T>G	XP_016883331.1:p.Ile682Ser
XM_017027843.1:c.2042T>G	XP_016883332.1:p.Ile681Ser
XM_017027844.2:c.2000T>G	XP_016883333.1:p.Ile667Ser
XM_017027845.1:c.1073T>G	XP_016883334.1:p.Ile358Ser
NM_004518.6:c.1973T>G	NP_004509.2:p.Ile658Ser
NM_172106.3:c.2003T>G	NP_742104.1:p.Ile668Ser
NM_172107.4:c.2057T>G MANE Select	NP_742105.1:p.Ile686Ser
NM_172108.5:c.1964T>G	NP_742106.1:p.Ile655Ser
NM_001382235.1:c.2111T>G	NP_001369164.1:p.Ile704Ser