Canonical Allele Identifier: CA409639364

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1999G>A	ENSP00000516702.1:p.Gly667Ser
ENST00000359125.7:c.1945G>A MANE Select	ENSP00000352035.2:p.Gly649Ser
ENST00000637193.1:c.1342G>A	ENSP00000490734.1:p.Gly448Ser
ENST00000344462.8:c.1852G>A	ENSP00000339611.4:p.Gly618Ser
ENST00000357249.6:c.1513G>A	ENSP00000349789.3:p.Gly505Ser
ENST00000359125.6:c.1945G>A	ENSP00000352035.2:p.Gly649Ser
ENST00000360480.7:c.1861G>A	ENSP00000353668.3:p.Gly621Ser
ENST00000370224.5:c.1969G>A	ENSP00000359244.2:p.Gly657Ser
ENST00000625514.2:c.1933G>A	ENSP00000486040.1:p.Gly645Ser
ENST00000626839.2:c.1891G>A	ENSP00000486706.1:p.Gly631Ser
ENST00000629241.2:c.1861G>A	ENSP00000487142.1:p.Gly621Ser
ENST00000629676.2:c.1679+6132G>A	ENSP00000486194.1:n.1679+6132G>A
NM_004518.4:c.1861G>A	NP_004509.2:p.Gly621Ser
NM_172106.1:c.1891G>A	NP_742104.1:p.Gly631Ser
NM_172107.2:c.1945G>A	NP_742105.1:p.Gly649Ser
NM_172108.3:c.1852G>A	NP_742106.1:p.Gly618Ser
XM_006723787.1:c.1987G>A	XP_006723850.1:p.Gly663Ser
XM_011528807.1:c.2053G>A	XP_011527109.1:p.Gly685Ser
XM_011528808.1:c.2050G>A	XP_011527110.1:p.Gly684Ser
XM_011528809.1:c.2023G>A	XP_011527111.1:p.Gly675Ser
XM_011528810.1:c.1999G>A	XP_011527112.1:p.Gly667Ser
XM_011528811.1:c.1969G>A	XP_011527113.1:p.Gly657Ser
XM_011528812.1:c.1942G>A	XP_011527114.1:p.Gly648Ser
XM_011528813.1:c.1927G>A	XP_011527115.1:p.Gly643Ser
XM_011528814.1:c.1534G>A	XP_011527116.1:p.Gly512Ser
NM_004518.5:c.1861G>A	NP_004509.2:p.Gly621Ser
NM_172106.2:c.1891G>A	NP_742104.1:p.Gly631Ser
NM_172107.3:c.1945G>A	NP_742105.1:p.Gly649Ser
NM_172108.4:c.1852G>A	NP_742106.1:p.Gly618Ser
XM_011528810.2:c.1999G>A	XP_011527112.1:p.Gly667Ser
XM_011528811.2:c.1969G>A	XP_011527113.1:p.Gly657Ser
XM_017027841.2:c.1996G>A	XP_016883330.1:p.Gly666Ser
XM_017027842.2:c.1933G>A	XP_016883331.1:p.Gly645Ser
XM_017027843.1:c.1930G>A	XP_016883332.1:p.Gly644Ser
XM_017027844.2:c.1888G>A	XP_016883333.1:p.Gly630Ser
XM_017027845.1:c.961G>A	XP_016883334.1:p.Gly321Ser
NM_004518.6:c.1861G>A	NP_004509.2:p.Gly621Ser
NM_172106.3:c.1891G>A	NP_742104.1:p.Gly631Ser
NM_172107.4:c.1945G>A MANE Select	NP_742105.1:p.Gly649Ser
NM_172108.5:c.1852G>A	NP_742106.1:p.Gly618Ser
NM_001382235.1:c.1999G>A	NP_001369164.1:p.Gly667Ser