Canonical Allele Identifier: CA511339336

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406965-C-A
• MyVariant Identifiers: chr20:g.62038318C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406965C>A , CM000682.2:g.63406965C>A	GRCh38
NC_000020.10:g.62038318C>A , CM000682.1:g.62038318C>A	GRCh37
NC_000020.9:g.61508762C>A	NCBI36
NG_009004.1:g.70676G>T
NG_009004.2:g.70676G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2352G>T	ENSP00000516702.1:p.Leu784=
ENST00000359125.7:c.2298G>T MANE Select	ENSP00000352035.2:p.Leu766=
ENST00000637193.1:c.1695G>T	ENSP00000490734.1:p.Leu565=
ENST00000344462.8:c.2205G>T	ENSP00000339611.4:p.Leu735=
ENST00000357249.6:c.1866G>T	ENSP00000349789.3:p.Leu622=
ENST00000359125.6:c.2298G>T	ENSP00000352035.2:p.Leu766=
ENST00000360480.7:c.2214G>T	ENSP00000353668.3:p.Leu738=
ENST00000370224.5:c.2241+81G>T	ENSP00000359244.2:n.2241+81G>T
ENST00000625514.2:c.2205+81G>T	ENSP00000486040.1:n.2205+81G>T
ENST00000626839.2:c.2244G>T	ENSP00000486706.1:p.Leu748=
ENST00000629241.2:c.2133+81G>T	ENSP00000487142.1:n.2133+81G>T
ENST00000629676.2:c.1680-6122G>T	ENSP00000486194.1:n.1680-6122G>T
NM_004518.4:c.2214G>T	NP_004509.2:p.Leu738=
NM_172106.1:c.2244G>T	NP_742104.1:p.Leu748=
NM_172107.2:c.2298G>T	NP_742105.1:p.Leu766=
NM_172108.3:c.2205G>T	NP_742106.1:p.Leu735=
XM_006723787.1:c.2340G>T	XP_006723850.1:p.Leu780=
XM_011528807.1:c.2406G>T	XP_011527109.1:p.Leu802=
XM_011528808.1:c.2403G>T	XP_011527110.1:p.Leu801=
XM_011528809.1:c.2376G>T	XP_011527111.1:p.Leu792=
XM_011528810.1:c.2352G>T	XP_011527112.1:p.Leu784=
XM_011528811.1:c.2322G>T	XP_011527113.1:p.Leu774=
XM_011528812.1:c.2295G>T	XP_011527114.1:p.Leu765=
XM_011528813.1:c.2280G>T	XP_011527115.1:p.Leu760=
XM_011528814.1:c.1887G>T	XP_011527116.1:p.Leu629=
NM_004518.5:c.2214G>T	NP_004509.2:p.Leu738=
NM_172106.2:c.2244G>T	NP_742104.1:p.Leu748=
NM_172107.3:c.2298G>T	NP_742105.1:p.Leu766=
NM_172108.4:c.2205G>T	NP_742106.1:p.Leu735=
XM_011528810.2:c.2352G>T	XP_011527112.1:p.Leu784=
XM_011528811.2:c.2322G>T	XP_011527113.1:p.Leu774=
XM_017027841.2:c.2349G>T	XP_016883330.1:p.Leu783=
XM_017027842.2:c.2286G>T	XP_016883331.1:p.Leu762=
XM_017027843.1:c.2283G>T	XP_016883332.1:p.Leu761=
XM_017027844.2:c.2241G>T	XP_016883333.1:p.Leu747=
XM_017027845.1:c.1314G>T	XP_016883334.1:p.Leu438=
NM_004518.6:c.2214G>T	NP_004509.2:p.Leu738=
NM_172106.3:c.2244G>T	NP_742104.1:p.Leu748=
NM_172107.4:c.2298G>T MANE Select	NP_742105.1:p.Leu766=
NM_172108.5:c.2205G>T	NP_742106.1:p.Leu735=
NM_001382235.1:c.2352G>T	NP_001369164.1:p.Leu784=