Canonical Allele Identifier: CA16043701
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374390
ClinVar RCV Id: RCV000415050
dbSNP Id: rs1057518668

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406968del , CM000682.2:g.63406968del GRCh38
NC_000020.10:g.62038321del , CM000682.1:g.62038321del GRCh37
NC_000020.9:g.61508765del NCBI36
NG_009004.1:g.70674del
NG_009004.2:g.70674del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.2350del ENSP00000516702.1:p.Leu784CysfsTer?
ENST00000359125.7:c.2296del MANE Select ENSP00000352035.2:p.Leu766CysfsTer?
ENST00000637193.1:c.1693del ENSP00000490734.1:p.Leu565CysfsTer?
ENST00000344462.8:c.2203del ENSP00000339611.4:p.Leu735CysfsTer?
ENST00000357249.6:c.1864del ENSP00000349789.3:p.Leu622CysfsTer?
ENST00000359125.6:c.2296del ENSP00000352035.2:p.Leu766CysfsTer?
ENST00000360480.7:c.2212del ENSP00000353668.3:p.Leu738CysfsTer?
ENST00000370224.5:c.2241+79del ENSP00000359244.2:n.2241+79del
ENST00000625514.2:c.2205+79del ENSP00000486040.1:n.2205+79del
ENST00000626839.2:c.2242del ENSP00000486706.1:p.Leu748CysfsTer?
ENST00000629241.2:c.2133+79del ENSP00000487142.1:n.2133+79del
ENST00000629676.2:c.1680-6124del ENSP00000486194.1:n.1680-6124del
NM_004518.4:c.2212del NP_004509.2:p.Leu738CysfsTer?
NM_172106.1:c.2242del NP_742104.1:p.Leu748CysfsTer?
NM_172107.2:c.2296del NP_742105.1:p.Leu766CysfsTer?
NM_172108.3:c.2203del NP_742106.1:p.Leu735CysfsTer?
XM_006723787.1:c.2338del XP_006723850.1:p.Leu780CysfsTer?
XM_011528807.1:c.2404del XP_011527109.1:p.Leu802CysfsTer?
XM_011528808.1:c.2401del XP_011527110.1:p.Leu801CysfsTer?
XM_011528809.1:c.2374del XP_011527111.1:p.Leu792CysfsTer?
XM_011528810.1:c.2350del XP_011527112.1:p.Leu784CysfsTer?
XM_011528811.1:c.2320del XP_011527113.1:p.Leu774CysfsTer?
XM_011528812.1:c.2293del XP_011527114.1:p.Leu765CysfsTer?
XM_011528813.1:c.2278del XP_011527115.1:p.Leu760CysfsTer?
XM_011528814.1:c.1885del XP_011527116.1:p.Leu629CysfsTer?
NM_004518.5:c.2212del NP_004509.2:p.Leu738CysfsTer?
NM_172106.2:c.2242del NP_742104.1:p.Leu748CysfsTer?
NM_172107.3:c.2296del NP_742105.1:p.Leu766CysfsTer?
NM_172108.4:c.2203del NP_742106.1:p.Leu735CysfsTer?
XM_011528810.2:c.2350del XP_011527112.1:p.Leu784CysfsTer?
XM_011528811.2:c.2320del XP_011527113.1:p.Leu774CysfsTer?
XM_017027841.2:c.2347del XP_016883330.1:p.Leu783CysfsTer?
XM_017027842.2:c.2284del XP_016883331.1:p.Leu762CysfsTer?
XM_017027843.1:c.2281del XP_016883332.1:p.Leu761CysfsTer?
XM_017027844.2:c.2239del XP_016883333.1:p.Leu747CysfsTer?
XM_017027845.1:c.1312del XP_016883334.1:p.Leu438CysfsTer?
NM_004518.6:c.2212del NP_004509.2:p.Leu738CysfsTer?
NM_172106.3:c.2242del NP_742104.1:p.Leu748CysfsTer?
NM_172107.4:c.2296del MANE Select NP_742105.1:p.Leu766CysfsTer?
NM_172108.5:c.2203del NP_742106.1:p.Leu735CysfsTer?
NM_001382235.1:c.2350del NP_001369164.1:p.Leu784CysfsTer?