Canonical Allele Identifier: CA2816991449

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406926_63406927insGCG , CM000682.2:g.63406926_63406927insGCG	GRCh38
NC_000020.10:g.62038279_62038280insGCG , CM000682.1:g.62038279_62038280insGCG	GRCh37
NC_000020.9:g.61508723_61508724insGCG	NCBI36
NG_009004.1:g.70714_70715insCGC
NG_009004.2:g.70714_70715insCGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2390_2391insCGC	ENSP00000516702.1:p.Gly797_Asn798insAla
ENST00000359125.7:c.2336_2337insCGC MANE Select	ENSP00000352035.2:p.Gly779_Asn780insAla
ENST00000637193.1:c.1733_1734insCGC	ENSP00000490734.1:p.Gly578_Asn579insAla
ENST00000344462.8:c.2243_2244insCGC	ENSP00000339611.4:p.Gly748_Asn749insAla
ENST00000357249.6:c.1904_1905insCGC	ENSP00000349789.3:p.Gly635_Asn636insAla
ENST00000359125.6:c.2336_2337insCGC	ENSP00000352035.2:p.Gly779_Asn780insAla
ENST00000360480.7:c.2252_2253insCGC	ENSP00000353668.3:p.Gly751_Asn752insAla
ENST00000370224.5:c.2241+119_2241+120insCGC	ENSP00000359244.2:n.2241+119_2241+120insCGC
ENST00000625514.2:c.2205+119_2205+120insCGC	ENSP00000486040.1:n.2205+119_2205+120insCGC
ENST00000626839.2:c.2282_2283insCGC	ENSP00000486706.1:p.Gly761_Asn762insAla
ENST00000629241.2:c.2133+119_2133+120insCGC	ENSP00000487142.1:n.2133+119_2133+120insCGC
ENST00000629676.2:c.1680-6084_1680-6083insCGC	ENSP00000486194.1:n.1680-6084_1680-6083insCGC
NM_004518.4:c.2252_2253insCGC	NP_004509.2:p.Gly751_Asn752insAla
NM_172106.1:c.2282_2283insCGC	NP_742104.1:p.Gly761_Asn762insAla
NM_172107.2:c.2336_2337insCGC	NP_742105.1:p.Gly779_Asn780insAla
NM_172108.3:c.2243_2244insCGC	NP_742106.1:p.Gly748_Asn749insAla
XM_006723787.1:c.2378_2379insCGC	XP_006723850.1:p.Gly793_Asn794insAla
XM_011528807.1:c.2444_2445insCGC	XP_011527109.1:p.Gly815_Asn816insAla
XM_011528808.1:c.2441_2442insCGC	XP_011527110.1:p.Gly814_Asn815insAla
XM_011528809.1:c.2414_2415insCGC	XP_011527111.1:p.Gly805_Asn806insAla
XM_011528810.1:c.2390_2391insCGC	XP_011527112.1:p.Gly797_Asn798insAla
XM_011528811.1:c.2360_2361insCGC	XP_011527113.1:p.Gly787_Asn788insAla
XM_011528812.1:c.2333_2334insCGC	XP_011527114.1:p.Gly778_Asn779insAla
XM_011528813.1:c.2318_2319insCGC	XP_011527115.1:p.Gly773_Asn774insAla
XM_011528814.1:c.1925_1926insCGC	XP_011527116.1:p.Gly642_Asn643insAla
NM_004518.5:c.2252_2253insCGC	NP_004509.2:p.Gly751_Asn752insAla
NM_172106.2:c.2282_2283insCGC	NP_742104.1:p.Gly761_Asn762insAla
NM_172107.3:c.2336_2337insCGC	NP_742105.1:p.Gly779_Asn780insAla
NM_172108.4:c.2243_2244insCGC	NP_742106.1:p.Gly748_Asn749insAla
XM_011528810.2:c.2390_2391insCGC	XP_011527112.1:p.Gly797_Asn798insAla
XM_011528811.2:c.2360_2361insCGC	XP_011527113.1:p.Gly787_Asn788insAla
XM_017027841.2:c.2387_2388insCGC	XP_016883330.1:p.Gly796_Asn797insAla
XM_017027842.2:c.2324_2325insCGC	XP_016883331.1:p.Gly775_Asn776insAla
XM_017027843.1:c.2321_2322insCGC	XP_016883332.1:p.Gly774_Asn775insAla
XM_017027844.2:c.2279_2280insCGC	XP_016883333.1:p.Gly760_Asn761insAla
XM_017027845.1:c.1352_1353insCGC	XP_016883334.1:p.Gly451_Asn452insAla
NM_004518.6:c.2252_2253insCGC	NP_004509.2:p.Gly751_Asn752insAla
NM_172106.3:c.2282_2283insCGC	NP_742104.1:p.Gly761_Asn762insAla
NM_172107.4:c.2336_2337insCGC MANE Select	NP_742105.1:p.Gly779_Asn780insAla
NM_172108.5:c.2243_2244insCGC	NP_742106.1:p.Gly748_Asn749insAla
NM_001382235.1:c.2390_2391insCGC	NP_001369164.1:p.Gly797_Asn798insAla