Canonical Allele Identifier: CA511339475

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038399C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407046C>T , CM000682.2:g.63407046C>T	GRCh38
NC_000020.10:g.62038399C>T , CM000682.1:g.62038399C>T	GRCh37
NC_000020.9:g.61508843C>T	NCBI36
NG_009004.1:g.70595G>A
NG_009004.2:g.70595G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2271G>A	ENSP00000516702.1:p.Leu757=
ENST00000359125.7:c.2217G>A MANE Select	ENSP00000352035.2:p.Leu739=
ENST00000637193.1:c.1614G>A	ENSP00000490734.1:p.Leu538=
ENST00000344462.8:c.2124G>A	ENSP00000339611.4:p.Leu708=
ENST00000357249.6:c.1785G>A	ENSP00000349789.3:p.Leu595=
ENST00000359125.6:c.2217G>A	ENSP00000352035.2:p.Leu739=
ENST00000360480.7:c.2133G>A	ENSP00000353668.3:p.Leu711=
ENST00000370224.5:c.2241G>A	ENSP00000359244.2:p.Leu747=
ENST00000625514.2:c.2205G>A	ENSP00000486040.1:p.Leu735=
ENST00000626839.2:c.2163G>A	ENSP00000486706.1:p.Leu721=
ENST00000629241.2:c.2133G>A	ENSP00000487142.1:p.Leu711=
ENST00000629676.2:c.1680-6203G>A	ENSP00000486194.1:n.1680-6203G>A
NM_004518.4:c.2133G>A	NP_004509.2:p.Leu711=
NM_172106.1:c.2163G>A	NP_742104.1:p.Leu721=
NM_172107.2:c.2217G>A	NP_742105.1:p.Leu739=
NM_172108.3:c.2124G>A	NP_742106.1:p.Leu708=
XM_006723787.1:c.2259G>A	XP_006723850.1:p.Leu753=
XM_011528807.1:c.2325G>A	XP_011527109.1:p.Leu775=
XM_011528808.1:c.2322G>A	XP_011527110.1:p.Leu774=
XM_011528809.1:c.2295G>A	XP_011527111.1:p.Leu765=
XM_011528810.1:c.2271G>A	XP_011527112.1:p.Leu757=
XM_011528811.1:c.2241G>A	XP_011527113.1:p.Leu747=
XM_011528812.1:c.2214G>A	XP_011527114.1:p.Leu738=
XM_011528813.1:c.2199G>A	XP_011527115.1:p.Leu733=
XM_011528814.1:c.1806G>A	XP_011527116.1:p.Leu602=
NM_004518.5:c.2133G>A	NP_004509.2:p.Leu711=
NM_172106.2:c.2163G>A	NP_742104.1:p.Leu721=
NM_172107.3:c.2217G>A	NP_742105.1:p.Leu739=
NM_172108.4:c.2124G>A	NP_742106.1:p.Leu708=
XM_011528810.2:c.2271G>A	XP_011527112.1:p.Leu757=
XM_011528811.2:c.2241G>A	XP_011527113.1:p.Leu747=
XM_017027841.2:c.2268G>A	XP_016883330.1:p.Leu756=
XM_017027842.2:c.2205G>A	XP_016883331.1:p.Leu735=
XM_017027843.1:c.2202G>A	XP_016883332.1:p.Leu734=
XM_017027844.2:c.2160G>A	XP_016883333.1:p.Leu720=
XM_017027845.1:c.1233G>A	XP_016883334.1:p.Leu411=
NM_004518.6:c.2133G>A	NP_004509.2:p.Leu711=
NM_172106.3:c.2163G>A	NP_742104.1:p.Leu721=
NM_172107.4:c.2217G>A MANE Select	NP_742105.1:p.Leu739=
NM_172108.5:c.2124G>A	NP_742106.1:p.Leu708=
NM_001382235.1:c.2271G>A	NP_001369164.1:p.Leu757=