Canonical Allele Identifier: CA153289
Gene: KCNQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63428387del , CM000682.2:g.63428387del GRCh38
NC_000020.10:g.62059740del , CM000682.1:g.62059740del GRCh37
NC_000020.9:g.61530184del NCBI36
NG_009004.1:g.49254del
NG_009004.2:g.49254del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.1197del ENSP00000516702.1:p.Ser399ArgfsTer23
ENST00000359125.7:c.1197del MANE Select ENSP00000352035.2:p.Ser399ArgfsTer?
ENST00000636638.1:n.80del
ENST00000637193.1:c.648del ENSP00000490734.1:p.Ser216ArgfsTer23
ENST00000637632.1:n.36del
ENST00000344462.8:c.1197del ENSP00000339611.4:p.Ser399ArgfsTer?
ENST00000357249.6:c.855del ENSP00000349789.3:p.Ser285ArgfsTer?
ENST00000359125.6:c.1197del ENSP00000352035.2:p.Ser399ArgfsTer?
ENST00000360480.7:c.1167del ENSP00000353668.3:p.Ser389ArgfsTer23
ENST00000370221.3:n.1323del
ENST00000370224.5:c.1167del ENSP00000359244.2:p.Ser389ArgfsTer23
ENST00000625514.2:c.1167del ENSP00000486040.1:p.Ser389ArgfsTer?
ENST00000626839.2:c.1197del ENSP00000486706.1:p.Ser399ArgfsTer23
ENST00000627221.2:c.311del
ENST00000629241.2:c.1167del ENSP00000487142.1:p.Ser389ArgfsTer23
ENST00000629676.2:c.1167del ENSP00000486194.1:p.Ser389ArgfsTer23
NM_004518.4:c.1167del NP_004509.2:p.Ser389ArgfsTer23
NM_172106.1:c.1197del NP_742104.1:p.Ser399ArgfsTer23
NM_172107.2:c.1197del NP_742105.1:p.Ser399ArgfsTer?
NM_172108.3:c.1197del NP_742106.1:p.Ser399ArgfsTer?
XM_006723787.1:c.1197del XP_006723850.1:p.Ser399ArgfsTer?
XM_011528807.1:c.1197del XP_011527109.1:p.Ser399ArgfsTer?
XM_011528808.1:c.1197del XP_011527110.1:p.Ser399ArgfsTer?
XM_011528809.1:c.1167del XP_011527111.1:p.Ser389ArgfsTer?
XM_011528810.1:c.1197del XP_011527112.1:p.Ser399ArgfsTer23
XM_011528811.1:c.1167del XP_011527113.1:p.Ser389ArgfsTer23
XM_011528812.1:c.1197del XP_011527114.1:p.Ser399ArgfsTer?
XM_011528813.1:c.1071del XP_011527115.1:p.Ser357ArgfsTer?
XM_011528814.1:c.678del XP_011527116.1:p.Ser226ArgfsTer?
XM_011528815.1:c.1197del XP_011527117.1:p.Ser399ArgfsTer?
NM_004518.5:c.1167del NP_004509.2:p.Ser389ArgfsTer23
NM_172106.2:c.1197del NP_742104.1:p.Ser399ArgfsTer23
NM_172107.3:c.1197del NP_742105.1:p.Ser399ArgfsTer?
NM_172108.4:c.1197del NP_742106.1:p.Ser399ArgfsTer?
XM_011528810.2:c.1197del XP_011527112.1:p.Ser399ArgfsTer23
XM_011528811.2:c.1167del XP_011527113.1:p.Ser389ArgfsTer23
XM_017027841.2:c.1197del XP_016883330.1:p.Ser399ArgfsTer23
XM_017027842.2:c.1197del XP_016883331.1:p.Ser399ArgfsTer23
XM_017027843.1:c.1128del XP_016883332.1:p.Ser376ArgfsTer23
XM_017027844.2:c.1197del XP_016883333.1:p.Ser399ArgfsTer23
NM_004518.6:c.1167del NP_004509.2:p.Ser389ArgfsTer23
NM_172106.3:c.1197del NP_742104.1:p.Ser399ArgfsTer23
NM_172107.4:c.1197del MANE Select NP_742105.1:p.Ser399ArgfsTer?
NM_172108.5:c.1197del NP_742106.1:p.Ser399ArgfsTer?
NM_001382235.1:c.1197del NP_001369164.1:p.Ser399ArgfsTer23