Canonical Allele Identifier: CA2374774344

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1043541
• ClinVar RCV Id: RCV001347662
• dbSNP Id: rs2079961029

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406978_63406980dup , CM000682.2:g.63406978_63406980dup	GRCh38
NC_000020.10:g.62038331_62038333dup , CM000682.1:g.62038331_62038333dup	GRCh37
NC_000020.9:g.61508775_61508777dup	NCBI36
NG_009004.1:g.70663_70665dup
NG_009004.2:g.70663_70665dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2339_2341dup	ENSP00000516702.1:p.Ser780_Met781insSer
ENST00000359125.7:c.2285_2287dup MANE Select	ENSP00000352035.2:p.Ser762_Met763insSer
ENST00000637193.1:c.1682_1684dup	ENSP00000490734.1:p.Ser561_Met562insSer
ENST00000344462.8:c.2192_2194dup	ENSP00000339611.4:p.Ser731_Met732insSer
ENST00000357249.6:c.1853_1855dup	ENSP00000349789.3:p.Ser618_Met619insSer
ENST00000359125.6:c.2285_2287dup	ENSP00000352035.2:p.Ser762_Met763insSer
ENST00000360480.7:c.2201_2203dup	ENSP00000353668.3:p.Ser734_Met735insSer
ENST00000370224.5:c.2241+68_2241+70dup	ENSP00000359244.2:n.2241+68_2241+70dup
ENST00000625514.2:c.2205+68_2205+70dup	ENSP00000486040.1:n.2205+68_2205+70dup
ENST00000626839.2:c.2231_2233dup	ENSP00000486706.1:p.Ser744_Met745insSer
ENST00000629241.2:c.2133+68_2133+70dup	ENSP00000487142.1:n.2133+68_2133+70dup
ENST00000629676.2:c.1680-6135_1680-6133dup	ENSP00000486194.1:n.1680-6135_1680-6133dup
NM_004518.4:c.2201_2203dup	NP_004509.2:p.Ser734_Met735insSer
NM_172106.1:c.2231_2233dup	NP_742104.1:p.Ser744_Met745insSer
NM_172107.2:c.2285_2287dup	NP_742105.1:p.Ser762_Met763insSer
NM_172108.3:c.2192_2194dup	NP_742106.1:p.Ser731_Met732insSer
XM_006723787.1:c.2327_2329dup	XP_006723850.1:p.Ser776_Met777insSer
XM_011528807.1:c.2393_2395dup	XP_011527109.1:p.Ser798_Met799insSer
XM_011528808.1:c.2390_2392dup	XP_011527110.1:p.Ser797_Met798insSer
XM_011528809.1:c.2363_2365dup	XP_011527111.1:p.Ser788_Met789insSer
XM_011528810.1:c.2339_2341dup	XP_011527112.1:p.Ser780_Met781insSer
XM_011528811.1:c.2309_2311dup	XP_011527113.1:p.Ser770_Met771insSer
XM_011528812.1:c.2282_2284dup	XP_011527114.1:p.Ser761_Met762insSer
XM_011528813.1:c.2267_2269dup	XP_011527115.1:p.Ser756_Met757insSer
XM_011528814.1:c.1874_1876dup	XP_011527116.1:p.Ser625_Met626insSer
NM_004518.5:c.2201_2203dup	NP_004509.2:p.Ser734_Met735insSer
NM_172106.2:c.2231_2233dup	NP_742104.1:p.Ser744_Met745insSer
NM_172107.3:c.2285_2287dup	NP_742105.1:p.Ser762_Met763insSer
NM_172108.4:c.2192_2194dup	NP_742106.1:p.Ser731_Met732insSer
XM_011528810.2:c.2339_2341dup	XP_011527112.1:p.Ser780_Met781insSer
XM_011528811.2:c.2309_2311dup	XP_011527113.1:p.Ser770_Met771insSer
XM_017027841.2:c.2336_2338dup	XP_016883330.1:p.Ser779_Met780insSer
XM_017027842.2:c.2273_2275dup	XP_016883331.1:p.Ser758_Met759insSer
XM_017027843.1:c.2270_2272dup	XP_016883332.1:p.Ser757_Met758insSer
XM_017027844.2:c.2228_2230dup	XP_016883333.1:p.Ser743_Met744insSer
XM_017027845.1:c.1301_1303dup	XP_016883334.1:p.Ser434_Met435insSer
NM_004518.6:c.2201_2203dup	NP_004509.2:p.Ser734_Met735insSer
NM_172106.3:c.2231_2233dup	NP_742104.1:p.Ser744_Met745insSer
NM_172107.4:c.2285_2287dup MANE Select	NP_742105.1:p.Ser762_Met763insSer
NM_172108.5:c.2192_2194dup	NP_742106.1:p.Ser731_Met732insSer
NM_001382235.1:c.2339_2341dup	NP_001369164.1:p.Ser780_Met781insSer