Canonical Allele Identifier: CA10654777
Gene: KCNQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369815
dbSNP Id: rs1057516126

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406665_63406669dup , CM000682.2:g.63406665_63406669dup GRCh38
NC_000020.10:g.62038018_62038022dup , CM000682.1:g.62038018_62038022dup GRCh37
NC_000020.9:g.61508462_61508466dup NCBI36
NG_009004.1:g.70977_70981dup
NG_009004.2:g.70977_70981dup

Transcript Alleles

HGVS Amino-acid change
NM_004518.4:c.2515_2519dup VV NP_004509.2:p.Arg843GlyfsTer?
NM_172106.1:c.2545_2549dup VV NP_742104.1:p.Arg853GlyfsTer?
NM_172107.2:c.2599_2603dup VV NP_742105.1:p.Arg871GlyfsTer?
NM_172108.3:c.2506_2510dup VV NP_742106.1:p.Arg840GlyfsTer?
XM_006723787.1:c.2641_2645dup XP_006723850.1:p.Arg885GlyfsTer?
XM_011528807.1:c.2707_2711dup XP_011527109.1:p.Arg907GlyfsTer?
XM_011528808.1:c.2704_2708dup XP_011527110.1:p.Arg906GlyfsTer?
XM_011528809.1:c.2677_2681dup XP_011527111.1:p.Arg897GlyfsTer?
XM_011528810.1:c.2653_2657dup XP_011527112.1:p.Arg889GlyfsTer?
XM_011528811.1:c.2623_2627dup XP_011527113.1:p.Arg879GlyfsTer?
XM_011528812.1:c.2596_2600dup XP_011527114.1:p.Arg870GlyfsTer?
XM_011528813.1:c.2581_2585dup XP_011527115.1:p.Arg865GlyfsTer?
XM_011528814.1:c.2188_2192dup XP_011527116.1:p.Arg734GlyfsTer?
NM_004518.5:c.2515_2519dup VV
NM_172106.2:c.2545_2549dup VV
NM_172107.3:c.2599_2603dup VV
NM_172108.4:c.2506_2510dup VV
XM_011528810.2:c.2653_2657dup
XM_011528811.2:c.2623_2627dup
XM_017027841.2:c.2650_2654dup XP_016883330.1:p.Arg888GlyfsTer?
XM_017027842.2:c.2587_2591dup XP_016883331.1:p.Arg867GlyfsTer?
XM_017027843.1:c.2584_2588dup XP_016883332.1:p.Arg866GlyfsTer?
XM_017027844.2:c.2542_2546dup XP_016883333.1:p.Arg852GlyfsTer?
XM_017027845.1:c.1615_1619dup XP_016883334.1:p.Arg543GlyfsTer?
ENST00000344462.8:c.2506_2510dup ENSP00000339611.4:p.Arg840GlyfsTer?
ENST00000357249.6:n.2167_2171dup ENSP00000349789.3:p.Arg727GlyfsTer?
ENST00000359125.6:c.2599_2603dup ENSP00000352035.2:p.Arg871GlyfsTer?
ENST00000360480.7:c.2515_2519dup ENSP00000353668.3:p.Arg843GlyfsTer?
ENST00000370224.5:c.2241+382_2241+386dup ENSP00000359244.2:p.=
ENST00000625514.2:c.2205+382_2205+386dup ENSP00000486040.1:p.=
ENST00000626839.2:c.2545_2549dup ENSP00000486706.1:p.Arg853GlyfsTer?
ENST00000629241.2:c.2133+382_2133+386dup ENSP00000487142.1:p.=
ENST00000629676.2:c.1680-5821_1680-5817dup ENSP00000486194.1:p.=