Canonical Allele Identifier: CA409639366

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038671C>A (hg19) ; chr20:g.63407318C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407318C>A , CM000682.2:g.63407318C>A	GRCh38
NC_000020.10:g.62038671C>A , CM000682.1:g.62038671C>A	GRCh37
NC_000020.9:g.61509115C>A	NCBI36
NG_009004.1:g.70323G>T
NG_009004.2:g.70323G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1999G>T	ENSP00000516702.1:p.Gly667Cys
ENST00000359125.7:c.1945G>T MANE Select	ENSP00000352035.2:p.Gly649Cys
ENST00000637193.1:c.1342G>T	ENSP00000490734.1:p.Gly448Cys
ENST00000344462.8:c.1852G>T	ENSP00000339611.4:p.Gly618Cys
ENST00000357249.6:c.1513G>T	ENSP00000349789.3:p.Gly505Cys
ENST00000359125.6:c.1945G>T	ENSP00000352035.2:p.Gly649Cys
ENST00000360480.7:c.1861G>T	ENSP00000353668.3:p.Gly621Cys
ENST00000370224.5:c.1969G>T	ENSP00000359244.2:p.Gly657Cys
ENST00000625514.2:c.1933G>T	ENSP00000486040.1:p.Gly645Cys
ENST00000626839.2:c.1891G>T	ENSP00000486706.1:p.Gly631Cys
ENST00000629241.2:c.1861G>T	ENSP00000487142.1:p.Gly621Cys
ENST00000629676.2:c.1679+6132G>T	ENSP00000486194.1:n.1679+6132G>T
NM_004518.4:c.1861G>T	NP_004509.2:p.Gly621Cys
NM_172106.1:c.1891G>T	NP_742104.1:p.Gly631Cys
NM_172107.2:c.1945G>T	NP_742105.1:p.Gly649Cys
NM_172108.3:c.1852G>T	NP_742106.1:p.Gly618Cys
XM_006723787.1:c.1987G>T	XP_006723850.1:p.Gly663Cys
XM_011528807.1:c.2053G>T	XP_011527109.1:p.Gly685Cys
XM_011528808.1:c.2050G>T	XP_011527110.1:p.Gly684Cys
XM_011528809.1:c.2023G>T	XP_011527111.1:p.Gly675Cys
XM_011528810.1:c.1999G>T	XP_011527112.1:p.Gly667Cys
XM_011528811.1:c.1969G>T	XP_011527113.1:p.Gly657Cys
XM_011528812.1:c.1942G>T	XP_011527114.1:p.Gly648Cys
XM_011528813.1:c.1927G>T	XP_011527115.1:p.Gly643Cys
XM_011528814.1:c.1534G>T	XP_011527116.1:p.Gly512Cys
NM_004518.5:c.1861G>T	NP_004509.2:p.Gly621Cys
NM_172106.2:c.1891G>T	NP_742104.1:p.Gly631Cys
NM_172107.3:c.1945G>T	NP_742105.1:p.Gly649Cys
NM_172108.4:c.1852G>T	NP_742106.1:p.Gly618Cys
XM_011528810.2:c.1999G>T	XP_011527112.1:p.Gly667Cys
XM_011528811.2:c.1969G>T	XP_011527113.1:p.Gly657Cys
XM_017027841.2:c.1996G>T	XP_016883330.1:p.Gly666Cys
XM_017027842.2:c.1933G>T	XP_016883331.1:p.Gly645Cys
XM_017027843.1:c.1930G>T	XP_016883332.1:p.Gly644Cys
XM_017027844.2:c.1888G>T	XP_016883333.1:p.Gly630Cys
XM_017027845.1:c.961G>T	XP_016883334.1:p.Gly321Cys
NM_004518.6:c.1861G>T	NP_004509.2:p.Gly621Cys
NM_172106.3:c.1891G>T	NP_742104.1:p.Gly631Cys
NM_172107.4:c.1945G>T MANE Select	NP_742105.1:p.Gly649Cys
NM_172108.5:c.1852G>T	NP_742106.1:p.Gly618Cys
NM_001382235.1:c.1999G>T	NP_001369164.1:p.Gly667Cys