Canonical Allele Identifier: CA511339410

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407208-G-A
• MyVariant Identifiers: chr20:g.62038561G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407208G>A , CM000682.2:g.63407208G>A	GRCh38
NC_000020.10:g.62038561G>A , CM000682.1:g.62038561G>A	GRCh37
NC_000020.9:g.61509005G>A	NCBI36
NG_009004.1:g.70433C>T
NG_009004.2:g.70433C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2109C>T	ENSP00000516702.1:p.Cys703=
ENST00000359125.7:c.2055C>T MANE Select	ENSP00000352035.2:p.Cys685=
ENST00000637193.1:c.1452C>T	ENSP00000490734.1:p.Cys484=
ENST00000344462.8:c.1962C>T	ENSP00000339611.4:p.Cys654=
ENST00000357249.6:c.1623C>T	ENSP00000349789.3:p.Cys541=
ENST00000359125.6:c.2055C>T	ENSP00000352035.2:p.Cys685=
ENST00000360480.7:c.1971C>T	ENSP00000353668.3:p.Cys657=
ENST00000370224.5:c.2079C>T	ENSP00000359244.2:p.Cys693=
ENST00000625514.2:c.2043C>T	ENSP00000486040.1:p.Cys681=
ENST00000626839.2:c.2001C>T	ENSP00000486706.1:p.Cys667=
ENST00000629241.2:c.1971C>T	ENSP00000487142.1:p.Cys657=
ENST00000629676.2:c.1679+6242C>T	ENSP00000486194.1:n.1679+6242C>T
NM_004518.4:c.1971C>T	NP_004509.2:p.Cys657=
NM_172106.1:c.2001C>T	NP_742104.1:p.Cys667=
NM_172107.2:c.2055C>T	NP_742105.1:p.Cys685=
NM_172108.3:c.1962C>T	NP_742106.1:p.Cys654=
XM_006723787.1:c.2097C>T	XP_006723850.1:p.Cys699=
XM_011528807.1:c.2163C>T	XP_011527109.1:p.Cys721=
XM_011528808.1:c.2160C>T	XP_011527110.1:p.Cys720=
XM_011528809.1:c.2133C>T	XP_011527111.1:p.Cys711=
XM_011528810.1:c.2109C>T	XP_011527112.1:p.Cys703=
XM_011528811.1:c.2079C>T	XP_011527113.1:p.Cys693=
XM_011528812.1:c.2052C>T	XP_011527114.1:p.Cys684=
XM_011528813.1:c.2037C>T	XP_011527115.1:p.Cys679=
XM_011528814.1:c.1644C>T	XP_011527116.1:p.Cys548=
NM_004518.5:c.1971C>T	NP_004509.2:p.Cys657=
NM_172106.2:c.2001C>T	NP_742104.1:p.Cys667=
NM_172107.3:c.2055C>T	NP_742105.1:p.Cys685=
NM_172108.4:c.1962C>T	NP_742106.1:p.Cys654=
XM_011528810.2:c.2109C>T	XP_011527112.1:p.Cys703=
XM_011528811.2:c.2079C>T	XP_011527113.1:p.Cys693=
XM_017027841.2:c.2106C>T	XP_016883330.1:p.Cys702=
XM_017027842.2:c.2043C>T	XP_016883331.1:p.Cys681=
XM_017027843.1:c.2040C>T	XP_016883332.1:p.Cys680=
XM_017027844.2:c.1998C>T	XP_016883333.1:p.Cys666=
XM_017027845.1:c.1071C>T	XP_016883334.1:p.Cys357=
NM_004518.6:c.1971C>T	NP_004509.2:p.Cys657=
NM_172106.3:c.2001C>T	NP_742104.1:p.Cys667=
NM_172107.4:c.2055C>T MANE Select	NP_742105.1:p.Cys685=
NM_172108.5:c.1962C>T	NP_742106.1:p.Cys654=
NM_001382235.1:c.2109C>T	NP_001369164.1:p.Cys703=