Canonical Allele Identifier: CA511339261

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1695021
• ClinVar RCV Id: RCV002263271 ; RCV003095970
• dbSNP Id: rs2145482676
• gnomAD v4: 20-63406770-C-T
• MyVariant Identifiers: chr20:g.62038123C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406770C>T , CM000682.2:g.63406770C>T	GRCh38
NC_000020.10:g.62038123C>T , CM000682.1:g.62038123C>T	GRCh37
NC_000020.9:g.61508567C>T	NCBI36
NG_009004.1:g.70871G>A
NG_009004.2:g.70871G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2547G>A	ENSP00000516702.1:p.Arg849=
ENST00000359125.7:c.2493G>A MANE Select	ENSP00000352035.2:p.Arg831=
ENST00000637193.1:c.1890G>A	ENSP00000490734.1:p.Arg630=
ENST00000344462.8:c.2400G>A	ENSP00000339611.4:p.Arg800=
ENST00000357249.6:c.2061G>A	ENSP00000349789.3:p.Arg687=
ENST00000359125.6:c.2493G>A	ENSP00000352035.2:p.Arg831=
ENST00000360480.7:c.2409G>A	ENSP00000353668.3:p.Arg803=
ENST00000370224.5:c.2241+276G>A	ENSP00000359244.2:n.2241+276G>A
ENST00000625514.2:c.2205+276G>A	ENSP00000486040.1:n.2205+276G>A
ENST00000626839.2:c.2439G>A	ENSP00000486706.1:p.Arg813=
ENST00000629241.2:c.2133+276G>A	ENSP00000487142.1:n.2133+276G>A
ENST00000629676.2:c.1680-5927G>A	ENSP00000486194.1:n.1680-5927G>A
NM_004518.4:c.2409G>A	NP_004509.2:p.Arg803=
NM_172106.1:c.2439G>A	NP_742104.1:p.Arg813=
NM_172107.2:c.2493G>A	NP_742105.1:p.Arg831=
NM_172108.3:c.2400G>A	NP_742106.1:p.Arg800=
XM_006723787.1:c.2535G>A	XP_006723850.1:p.Arg845=
XM_011528807.1:c.2601G>A	XP_011527109.1:p.Arg867=
XM_011528808.1:c.2598G>A	XP_011527110.1:p.Arg866=
XM_011528809.1:c.2571G>A	XP_011527111.1:p.Arg857=
XM_011528810.1:c.2547G>A	XP_011527112.1:p.Arg849=
XM_011528811.1:c.2517G>A	XP_011527113.1:p.Arg839=
XM_011528812.1:c.2490G>A	XP_011527114.1:p.Arg830=
XM_011528813.1:c.2475G>A	XP_011527115.1:p.Arg825=
XM_011528814.1:c.2082G>A	XP_011527116.1:p.Arg694=
NM_004518.5:c.2409G>A	NP_004509.2:p.Arg803=
NM_172106.2:c.2439G>A	NP_742104.1:p.Arg813=
NM_172107.3:c.2493G>A	NP_742105.1:p.Arg831=
NM_172108.4:c.2400G>A	NP_742106.1:p.Arg800=
XM_011528810.2:c.2547G>A	XP_011527112.1:p.Arg849=
XM_011528811.2:c.2517G>A	XP_011527113.1:p.Arg839=
XM_017027841.2:c.2544G>A	XP_016883330.1:p.Arg848=
XM_017027842.2:c.2481G>A	XP_016883331.1:p.Arg827=
XM_017027843.1:c.2478G>A	XP_016883332.1:p.Arg826=
XM_017027844.2:c.2436G>A	XP_016883333.1:p.Arg812=
XM_017027845.1:c.1509G>A	XP_016883334.1:p.Arg503=
NM_004518.6:c.2409G>A	NP_004509.2:p.Arg803=
NM_172106.3:c.2439G>A	NP_742104.1:p.Arg813=
NM_172107.4:c.2493G>A MANE Select	NP_742105.1:p.Arg831=
NM_172108.5:c.2400G>A	NP_742106.1:p.Arg800=
NM_001382235.1:c.2547G>A	NP_001369164.1:p.Arg849=