Canonical Allele Identifier: CA2374774267

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406837_63406838delinsTG , CM000682.2:g.63406837_63406838delinsTG	GRCh38
NC_000020.10:g.62038190_62038191delinsTG , CM000682.1:g.62038190_62038191delinsTG	GRCh37
NC_000020.9:g.61508634_61508635delinsTG	NCBI36
NG_009004.1:g.70803_70804delinsCA
NG_009004.2:g.70803_70804delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2479_2480delinsCA	ENSP00000516702.1:p.Gln827=
ENST00000359125.7:c.2425_2426delinsCA MANE Select	ENSP00000352035.2:p.Gln809=
ENST00000637193.1:c.1822_1823delinsCA	ENSP00000490734.1:p.Gln608=
ENST00000344462.8:c.2332_2333delinsCA	ENSP00000339611.4:p.Gln778=
ENST00000357249.6:c.1993_1994delinsCA	ENSP00000349789.3:p.Gln665=
ENST00000359125.6:c.2425_2426delinsCA	ENSP00000352035.2:p.Gln809=
ENST00000360480.7:c.2341_2342delinsCA	ENSP00000353668.3:p.Gln781=
ENST00000370224.5:c.2241+208_2241+209delinsCA	ENSP00000359244.2:n.2241+208_2241+209delinsCA
ENST00000625514.2:c.2205+208_2205+209delinsCA	ENSP00000486040.1:n.2205+208_2205+209delinsCA
ENST00000626839.2:c.2371_2372delinsCA	ENSP00000486706.1:p.Gln791=
ENST00000629241.2:c.2133+208_2133+209delinsCA	ENSP00000487142.1:n.2133+208_2133+209delinsCA
ENST00000629676.2:c.1680-5995_1680-5994delinsCA	ENSP00000486194.1:n.1680-5995_1680-5994delinsCA
NM_004518.4:c.2341_2342delinsCA	NP_004509.2:p.Gln781=
NM_172106.1:c.2371_2372delinsCA	NP_742104.1:p.Gln791=
NM_172107.2:c.2425_2426delinsCA	NP_742105.1:p.Gln809=
NM_172108.3:c.2332_2333delinsCA	NP_742106.1:p.Gln778=
XM_006723787.1:c.2467_2468delinsCA	XP_006723850.1:p.Gln823=
XM_011528807.1:c.2533_2534delinsCA	XP_011527109.1:p.Gln845=
XM_011528808.1:c.2530_2531delinsCA	XP_011527110.1:p.Gln844=
XM_011528809.1:c.2503_2504delinsCA	XP_011527111.1:p.Gln835=
XM_011528810.1:c.2479_2480delinsCA	XP_011527112.1:p.Gln827=
XM_011528811.1:c.2449_2450delinsCA	XP_011527113.1:p.Gln817=
XM_011528812.1:c.2422_2423delinsCA	XP_011527114.1:p.Gln808=
XM_011528813.1:c.2407_2408delinsCA	XP_011527115.1:p.Gln803=
XM_011528814.1:c.2014_2015delinsCA	XP_011527116.1:p.Gln672=
NM_004518.5:c.2341_2342delinsCA	NP_004509.2:p.Gln781=
NM_172106.2:c.2371_2372delinsCA	NP_742104.1:p.Gln791=
NM_172107.3:c.2425_2426delinsCA	NP_742105.1:p.Gln809=
NM_172108.4:c.2332_2333delinsCA	NP_742106.1:p.Gln778=
XM_011528810.2:c.2479_2480delinsCA	XP_011527112.1:p.Gln827=
XM_011528811.2:c.2449_2450delinsCA	XP_011527113.1:p.Gln817=
XM_017027841.2:c.2476_2477delinsCA	XP_016883330.1:p.Gln826=
XM_017027842.2:c.2413_2414delinsCA	XP_016883331.1:p.Gln805=
XM_017027843.1:c.2410_2411delinsCA	XP_016883332.1:p.Gln804=
XM_017027844.2:c.2368_2369delinsCA	XP_016883333.1:p.Gln790=
XM_017027845.1:c.1441_1442delinsCA	XP_016883334.1:p.Gln481=
NM_004518.6:c.2341_2342delinsCA	NP_004509.2:p.Gln781=
NM_172106.3:c.2371_2372delinsCA	NP_742104.1:p.Gln791=
NM_172107.4:c.2425_2426delinsCA MANE Select	NP_742105.1:p.Gln809=
NM_172108.5:c.2332_2333delinsCA	NP_742106.1:p.Gln778=
NM_001382235.1:c.2479_2480delinsCA	NP_001369164.1:p.Gln827=