Canonical Allele Identifier: CA409638675

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038434G>A (hg19) ; chr20:g.63407081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407081G>A , CM000682.2:g.63407081G>A	GRCh38
NC_000020.10:g.62038434G>A , CM000682.1:g.62038434G>A	GRCh37
NC_000020.9:g.61508878G>A	NCBI36
NG_009004.1:g.70560C>T
NG_009004.2:g.70560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2236C>T	ENSP00000516702.1:p.His746Tyr
ENST00000359125.7:c.2182C>T MANE Select	ENSP00000352035.2:p.His728Tyr
ENST00000637193.1:c.1579C>T	ENSP00000490734.1:p.His527Tyr
ENST00000344462.8:c.2089C>T	ENSP00000339611.4:p.His697Tyr
ENST00000357249.6:c.1750C>T	ENSP00000349789.3:p.His584Tyr
ENST00000359125.6:c.2182C>T	ENSP00000352035.2:p.His728Tyr
ENST00000360480.7:c.2098C>T	ENSP00000353668.3:p.His700Tyr
ENST00000370224.5:c.2206C>T	ENSP00000359244.2:p.His736Tyr
ENST00000625514.2:c.2170C>T	ENSP00000486040.1:p.His724Tyr
ENST00000626839.2:c.2128C>T	ENSP00000486706.1:p.His710Tyr
ENST00000629241.2:c.2098C>T	ENSP00000487142.1:p.His700Tyr
ENST00000629676.2:c.1680-6238C>T	ENSP00000486194.1:n.1680-6238C>T
NM_004518.4:c.2098C>T	NP_004509.2:p.His700Tyr
NM_172106.1:c.2128C>T	NP_742104.1:p.His710Tyr
NM_172107.2:c.2182C>T	NP_742105.1:p.His728Tyr
NM_172108.3:c.2089C>T	NP_742106.1:p.His697Tyr
XM_006723787.1:c.2224C>T	XP_006723850.1:p.His742Tyr
XM_011528807.1:c.2290C>T	XP_011527109.1:p.His764Tyr
XM_011528808.1:c.2287C>T	XP_011527110.1:p.His763Tyr
XM_011528809.1:c.2260C>T	XP_011527111.1:p.His754Tyr
XM_011528810.1:c.2236C>T	XP_011527112.1:p.His746Tyr
XM_011528811.1:c.2206C>T	XP_011527113.1:p.His736Tyr
XM_011528812.1:c.2179C>T	XP_011527114.1:p.His727Tyr
XM_011528813.1:c.2164C>T	XP_011527115.1:p.His722Tyr
XM_011528814.1:c.1771C>T	XP_011527116.1:p.His591Tyr
NM_004518.5:c.2098C>T	NP_004509.2:p.His700Tyr
NM_172106.2:c.2128C>T	NP_742104.1:p.His710Tyr
NM_172107.3:c.2182C>T	NP_742105.1:p.His728Tyr
NM_172108.4:c.2089C>T	NP_742106.1:p.His697Tyr
XM_011528810.2:c.2236C>T	XP_011527112.1:p.His746Tyr
XM_011528811.2:c.2206C>T	XP_011527113.1:p.His736Tyr
XM_017027841.2:c.2233C>T	XP_016883330.1:p.His745Tyr
XM_017027842.2:c.2170C>T	XP_016883331.1:p.His724Tyr
XM_017027843.1:c.2167C>T	XP_016883332.1:p.His723Tyr
XM_017027844.2:c.2125C>T	XP_016883333.1:p.His709Tyr
XM_017027845.1:c.1198C>T	XP_016883334.1:p.His400Tyr
NM_004518.6:c.2098C>T	NP_004509.2:p.His700Tyr
NM_172106.3:c.2128C>T	NP_742104.1:p.His710Tyr
NM_172107.4:c.2182C>T MANE Select	NP_742105.1:p.His728Tyr
NM_172108.5:c.2089C>T	NP_742106.1:p.His697Tyr
NM_001382235.1:c.2236C>T	NP_001369164.1:p.His746Tyr