Canonical Allele Identifier: CA2374774342

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406976_63406991delinsTGCTGGCGCGGTTGCC , CM000682.2:g.63406976_63406991delinsTGCTGGCGCGGTTGCC	GRCh38
NC_000020.10:g.62038329_62038344delinsTGCTGGCGCGGTTGCC , CM000682.1:g.62038329_62038344delinsTGCTGGCGCGGTTGCC	GRCh37
NC_000020.9:g.61508773_61508788delinsTGCTGGCGCGGTTGCC	NCBI36
NG_009004.1:g.70650_70665delinsGGCAACCGCGCCAGCA
NG_009004.2:g.70650_70665delinsGGCAACCGCGCCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2326_2341delinsGGCAACCGCGCCAGCA	ENSP00000516702.1:p.Gly776=
ENST00000359125.7:c.2272_2287delinsGGCAACCGCGCCAGCA MANE Select	ENSP00000352035.2:p.Gly758=
ENST00000637193.1:c.1669_1684delinsGGCAACCGCGCCAGCA	ENSP00000490734.1:p.Gly557=
ENST00000344462.8:c.2179_2194delinsGGCAACCGCGCCAGCA	ENSP00000339611.4:p.Gly727=
ENST00000357249.6:c.1840_1855delinsGGCAACCGCGCCAGCA	ENSP00000349789.3:p.Gly614=
ENST00000359125.6:c.2272_2287delinsGGCAACCGCGCCAGCA	ENSP00000352035.2:p.Gly758=
ENST00000360480.7:c.2188_2203delinsGGCAACCGCGCCAGCA	ENSP00000353668.3:p.Gly730=
ENST00000370224.5:c.2241+55_2241+70delinsGGCAACCGCGCCAGCA	ENSP00000359244.2:n.2241+55_2241+70delinsGGCAACCGCGCCAGCA
ENST00000625514.2:c.2205+55_2205+70delinsGGCAACCGCGCCAGCA	ENSP00000486040.1:n.2205+55_2205+70delinsGGCAACCGCGCCAGCA
ENST00000626839.2:c.2218_2233delinsGGCAACCGCGCCAGCA	ENSP00000486706.1:p.Gly740=
ENST00000629241.2:c.2133+55_2133+70delinsGGCAACCGCGCCAGCA	ENSP00000487142.1:n.2133+55_2133+70delinsGGCAACCGCGCCAGCA
ENST00000629676.2:c.1680-6148_1680-6133delinsGGCAACCGCGCCAGCA	ENSP00000486194.1:n.1680-6148_1680-6133delinsGGCAACCGCGCCAGCA...
NM_004518.4:c.2188_2203delinsGGCAACCGCGCCAGCA	NP_004509.2:p.Gly730=
NM_172106.1:c.2218_2233delinsGGCAACCGCGCCAGCA	NP_742104.1:p.Gly740=
NM_172107.2:c.2272_2287delinsGGCAACCGCGCCAGCA	NP_742105.1:p.Gly758=
NM_172108.3:c.2179_2194delinsGGCAACCGCGCCAGCA	NP_742106.1:p.Gly727=
XM_006723787.1:c.2314_2329delinsGGCAACCGCGCCAGCA	XP_006723850.1:p.Gly772=
XM_011528807.1:c.2380_2395delinsGGCAACCGCGCCAGCA	XP_011527109.1:p.Gly794=
XM_011528808.1:c.2377_2392delinsGGCAACCGCGCCAGCA	XP_011527110.1:p.Gly793=
XM_011528809.1:c.2350_2365delinsGGCAACCGCGCCAGCA	XP_011527111.1:p.Gly784=
XM_011528810.1:c.2326_2341delinsGGCAACCGCGCCAGCA	XP_011527112.1:p.Gly776=
XM_011528811.1:c.2296_2311delinsGGCAACCGCGCCAGCA	XP_011527113.1:p.Gly766=
XM_011528812.1:c.2269_2284delinsGGCAACCGCGCCAGCA	XP_011527114.1:p.Gly757=
XM_011528813.1:c.2254_2269delinsGGCAACCGCGCCAGCA	XP_011527115.1:p.Gly752=
XM_011528814.1:c.1861_1876delinsGGCAACCGCGCCAGCA	XP_011527116.1:p.Gly621=
NM_004518.5:c.2188_2203delinsGGCAACCGCGCCAGCA	NP_004509.2:p.Gly730=
NM_172106.2:c.2218_2233delinsGGCAACCGCGCCAGCA	NP_742104.1:p.Gly740=
NM_172107.3:c.2272_2287delinsGGCAACCGCGCCAGCA	NP_742105.1:p.Gly758=
NM_172108.4:c.2179_2194delinsGGCAACCGCGCCAGCA	NP_742106.1:p.Gly727=
XM_011528810.2:c.2326_2341delinsGGCAACCGCGCCAGCA	XP_011527112.1:p.Gly776=
XM_011528811.2:c.2296_2311delinsGGCAACCGCGCCAGCA	XP_011527113.1:p.Gly766=
XM_017027841.2:c.2323_2338delinsGGCAACCGCGCCAGCA	XP_016883330.1:p.Gly775=
XM_017027842.2:c.2260_2275delinsGGCAACCGCGCCAGCA	XP_016883331.1:p.Gly754=
XM_017027843.1:c.2257_2272delinsGGCAACCGCGCCAGCA	XP_016883332.1:p.Gly753=
XM_017027844.2:c.2215_2230delinsGGCAACCGCGCCAGCA	XP_016883333.1:p.Gly739=
XM_017027845.1:c.1288_1303delinsGGCAACCGCGCCAGCA	XP_016883334.1:p.Gly430=
NM_004518.6:c.2188_2203delinsGGCAACCGCGCCAGCA	NP_004509.2:p.Gly730=
NM_172106.3:c.2218_2233delinsGGCAACCGCGCCAGCA	NP_742104.1:p.Gly740=
NM_172107.4:c.2272_2287delinsGGCAACCGCGCCAGCA MANE Select	NP_742105.1:p.Gly758=
NM_172108.5:c.2179_2194delinsGGCAACCGCGCCAGCA	NP_742106.1:p.Gly727=
NM_001382235.1:c.2326_2341delinsGGCAACCGCGCCAGCA	NP_001369164.1:p.Gly776=