Canonical Allele Identifier: CA2816991467
Gene: KCNQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406958_63406960del , CM000682.2:g.63406958_63406960del GRCh38
NC_000020.10:g.62038311_62038313del , CM000682.1:g.62038311_62038313del GRCh37
NC_000020.9:g.61508755_61508757del NCBI36
NG_009004.1:g.70685_70687del
NG_009004.2:g.70685_70687del

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2361_2363del ENSP00000516702.1:p.Glu787del
ENST00000359125.7:c.2307_2309del MANE Select ENSP00000352035.2:p.Glu769del
ENST00000637193.1:c.1704_1706del ENSP00000490734.1:p.Glu568del
ENST00000344462.8:c.2214_2216del ENSP00000339611.4:p.Glu738del
ENST00000357249.6:c.1875_1877del ENSP00000349789.3:p.Glu625del
ENST00000359125.6:c.2307_2309del ENSP00000352035.2:p.Glu769del
ENST00000360480.7:c.2223_2225del ENSP00000353668.3:p.Glu741del
ENST00000370224.5:c.2241+90_2241+92del ENSP00000359244.2:n.2241+90_2241+92del
ENST00000625514.2:c.2205+90_2205+92del ENSP00000486040.1:n.2205+90_2205+92del
ENST00000626839.2:c.2253_2255del ENSP00000486706.1:p.Glu751del
ENST00000629241.2:c.2133+90_2133+92del ENSP00000487142.1:n.2133+90_2133+92del
ENST00000629676.2:c.1680-6113_1680-6111del ENSP00000486194.1:n.1680-6113_1680-6111del
NM_004518.4:c.2223_2225del NP_004509.2:p.Glu741del
NM_172106.1:c.2253_2255del NP_742104.1:p.Glu751del
NM_172107.2:c.2307_2309del NP_742105.1:p.Glu769del
NM_172108.3:c.2214_2216del NP_742106.1:p.Glu738del
XM_006723787.1:c.2349_2351del XP_006723850.1:p.Glu783del
XM_011528807.1:c.2415_2417del XP_011527109.1:p.Glu805del
XM_011528808.1:c.2412_2414del XP_011527110.1:p.Glu804del
XM_011528809.1:c.2385_2387del XP_011527111.1:p.Glu795del
XM_011528810.1:c.2361_2363del XP_011527112.1:p.Glu787del
XM_011528811.1:c.2331_2333del XP_011527113.1:p.Glu777del
XM_011528812.1:c.2304_2306del XP_011527114.1:p.Glu768del
XM_011528813.1:c.2289_2291del XP_011527115.1:p.Glu763del
XM_011528814.1:c.1896_1898del XP_011527116.1:p.Glu632del
NM_004518.5:c.2223_2225del NP_004509.2:p.Glu741del
NM_172106.2:c.2253_2255del NP_742104.1:p.Glu751del
NM_172107.3:c.2307_2309del NP_742105.1:p.Glu769del
NM_172108.4:c.2214_2216del NP_742106.1:p.Glu738del
XM_011528810.2:c.2361_2363del XP_011527112.1:p.Glu787del
XM_011528811.2:c.2331_2333del XP_011527113.1:p.Glu777del
XM_017027841.2:c.2358_2360del XP_016883330.1:p.Glu786del
XM_017027842.2:c.2295_2297del XP_016883331.1:p.Glu765del
XM_017027843.1:c.2292_2294del XP_016883332.1:p.Glu764del
XM_017027844.2:c.2250_2252del XP_016883333.1:p.Glu750del
XM_017027845.1:c.1323_1325del XP_016883334.1:p.Glu441del
NM_004518.6:c.2223_2225del NP_004509.2:p.Glu741del
NM_172106.3:c.2253_2255del NP_742104.1:p.Glu751del
NM_172107.4:c.2307_2309del MANE Select NP_742105.1:p.Glu769del
NM_172108.5:c.2214_2216del NP_742106.1:p.Glu738del
NM_001382235.1:c.2361_2363del NP_001369164.1:p.Glu787del