Canonical Allele Identifier: CA409639084

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2111T>C	ENSP00000516702.1:p.Ile704Thr
ENST00000359125.7:c.2057T>C MANE Select	ENSP00000352035.2:p.Ile686Thr
ENST00000637193.1:c.1454T>C	ENSP00000490734.1:p.Ile485Thr
ENST00000344462.8:c.1964T>C	ENSP00000339611.4:p.Ile655Thr
ENST00000357249.6:c.1625T>C	ENSP00000349789.3:p.Ile542Thr
ENST00000359125.6:c.2057T>C	ENSP00000352035.2:p.Ile686Thr
ENST00000360480.7:c.1973T>C	ENSP00000353668.3:p.Ile658Thr
ENST00000370224.5:c.2081T>C	ENSP00000359244.2:p.Ile694Thr
ENST00000625514.2:c.2045T>C	ENSP00000486040.1:p.Ile682Thr
ENST00000626839.2:c.2003T>C	ENSP00000486706.1:p.Ile668Thr
ENST00000629241.2:c.1973T>C	ENSP00000487142.1:p.Ile658Thr
ENST00000629676.2:c.1679+6244T>C	ENSP00000486194.1:n.1679+6244T>C
NM_004518.4:c.1973T>C	NP_004509.2:p.Ile658Thr
NM_172106.1:c.2003T>C	NP_742104.1:p.Ile668Thr
NM_172107.2:c.2057T>C	NP_742105.1:p.Ile686Thr
NM_172108.3:c.1964T>C	NP_742106.1:p.Ile655Thr
XM_006723787.1:c.2099T>C	XP_006723850.1:p.Ile700Thr
XM_011528807.1:c.2165T>C	XP_011527109.1:p.Ile722Thr
XM_011528808.1:c.2162T>C	XP_011527110.1:p.Ile721Thr
XM_011528809.1:c.2135T>C	XP_011527111.1:p.Ile712Thr
XM_011528810.1:c.2111T>C	XP_011527112.1:p.Ile704Thr
XM_011528811.1:c.2081T>C	XP_011527113.1:p.Ile694Thr
XM_011528812.1:c.2054T>C	XP_011527114.1:p.Ile685Thr
XM_011528813.1:c.2039T>C	XP_011527115.1:p.Ile680Thr
XM_011528814.1:c.1646T>C	XP_011527116.1:p.Ile549Thr
NM_004518.5:c.1973T>C	NP_004509.2:p.Ile658Thr
NM_172106.2:c.2003T>C	NP_742104.1:p.Ile668Thr
NM_172107.3:c.2057T>C	NP_742105.1:p.Ile686Thr
NM_172108.4:c.1964T>C	NP_742106.1:p.Ile655Thr
XM_011528810.2:c.2111T>C	XP_011527112.1:p.Ile704Thr
XM_011528811.2:c.2081T>C	XP_011527113.1:p.Ile694Thr
XM_017027841.2:c.2108T>C	XP_016883330.1:p.Ile703Thr
XM_017027842.2:c.2045T>C	XP_016883331.1:p.Ile682Thr
XM_017027843.1:c.2042T>C	XP_016883332.1:p.Ile681Thr
XM_017027844.2:c.2000T>C	XP_016883333.1:p.Ile667Thr
XM_017027845.1:c.1073T>C	XP_016883334.1:p.Ile358Thr
NM_004518.6:c.1973T>C	NP_004509.2:p.Ile658Thr
NM_172106.3:c.2003T>C	NP_742104.1:p.Ile668Thr
NM_172107.4:c.2057T>C MANE Select	NP_742105.1:p.Ile686Thr
NM_172108.5:c.1964T>C	NP_742106.1:p.Ile655Thr
NM_001382235.1:c.2111T>C	NP_001369164.1:p.Ile704Thr