Canonical Allele Identifier: CA916083759

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 855374
• ClinVar RCV Id: RCV001060631
• dbSNP Id: rs2079958591

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406941_63406942delinsAT , CM000682.2:g.63406941_63406942delinsAT	GRCh38
NC_000020.10:g.62038294_62038295delinsAT , CM000682.1:g.62038294_62038295delinsAT	GRCh37
NC_000020.9:g.61508738_61508739delinsAT	NCBI36
NG_009004.1:g.70699_70700delinsAT
NG_009004.2:g.70699_70700delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2375_2376delinsAT	ENSP00000516702.1:p.Cys792Tyr
ENST00000359125.7:c.2321_2322delinsAT MANE Select	ENSP00000352035.2:p.Cys774Tyr
ENST00000637193.1:c.1718_1719delinsAT	ENSP00000490734.1:p.Cys573Tyr
ENST00000344462.8:c.2228_2229delinsAT	ENSP00000339611.4:p.Cys743Tyr
ENST00000357249.6:c.1889_1890delinsAT	ENSP00000349789.3:p.Cys630Tyr
ENST00000359125.6:c.2321_2322delinsAT	ENSP00000352035.2:p.Cys774Tyr
ENST00000360480.7:c.2237_2238delinsAT	ENSP00000353668.3:p.Cys746Tyr
ENST00000370224.5:c.2241+104_2241+105delinsAT	ENSP00000359244.2:n.2241+104_2241+105delinsAT
ENST00000625514.2:c.2205+104_2205+105delinsAT	ENSP00000486040.1:n.2205+104_2205+105delinsAT
ENST00000626839.2:c.2267_2268delinsAT	ENSP00000486706.1:p.Cys756Tyr
ENST00000629241.2:c.2133+104_2133+105delinsAT	ENSP00000487142.1:n.2133+104_2133+105delinsAT
ENST00000629676.2:c.1680-6099_1680-6098delinsAT	ENSP00000486194.1:n.1680-6099_1680-6098delinsAT
NM_004518.4:c.2237_2238delinsAT	NP_004509.2:p.Cys746Tyr
NM_172106.1:c.2267_2268delinsAT	NP_742104.1:p.Cys756Tyr
NM_172107.2:c.2321_2322delinsAT	NP_742105.1:p.Cys774Tyr
NM_172108.3:c.2228_2229delinsAT	NP_742106.1:p.Cys743Tyr
XM_006723787.1:c.2363_2364delinsAT	XP_006723850.1:p.Cys788Tyr
XM_011528807.1:c.2429_2430delinsAT	XP_011527109.1:p.Cys810Tyr
XM_011528808.1:c.2426_2427delinsAT	XP_011527110.1:p.Cys809Tyr
XM_011528809.1:c.2399_2400delinsAT	XP_011527111.1:p.Cys800Tyr
XM_011528810.1:c.2375_2376delinsAT	XP_011527112.1:p.Cys792Tyr
XM_011528811.1:c.2345_2346delinsAT	XP_011527113.1:p.Cys782Tyr
XM_011528812.1:c.2318_2319delinsAT	XP_011527114.1:p.Cys773Tyr
XM_011528813.1:c.2303_2304delinsAT	XP_011527115.1:p.Cys768Tyr
XM_011528814.1:c.1910_1911delinsAT	XP_011527116.1:p.Cys637Tyr
NM_004518.5:c.2237_2238delinsAT	NP_004509.2:p.Cys746Tyr
NM_172106.2:c.2267_2268delinsAT	NP_742104.1:p.Cys756Tyr
NM_172107.3:c.2321_2322delinsAT	NP_742105.1:p.Cys774Tyr
NM_172108.4:c.2228_2229delinsAT	NP_742106.1:p.Cys743Tyr
XM_011528810.2:c.2375_2376delinsAT	XP_011527112.1:p.Cys792Tyr
XM_011528811.2:c.2345_2346delinsAT	XP_011527113.1:p.Cys782Tyr
XM_017027841.2:c.2372_2373delinsAT	XP_016883330.1:p.Cys791Tyr
XM_017027842.2:c.2309_2310delinsAT	XP_016883331.1:p.Cys770Tyr
XM_017027843.1:c.2306_2307delinsAT	XP_016883332.1:p.Cys769Tyr
XM_017027844.2:c.2264_2265delinsAT	XP_016883333.1:p.Cys755Tyr
XM_017027845.1:c.1337_1338delinsAT	XP_016883334.1:p.Cys446Tyr
NM_004518.6:c.2237_2238delinsAT	NP_004509.2:p.Cys746Tyr
NM_172106.3:c.2267_2268delinsAT	NP_742104.1:p.Cys756Tyr
NM_172107.4:c.2321_2322delinsAT MANE Select	NP_742105.1:p.Cys774Tyr
NM_172108.5:c.2228_2229delinsAT	NP_742106.1:p.Cys743Tyr
NM_001382235.1:c.2375_2376delinsAT	NP_001369164.1:p.Cys792Tyr