Canonical Allele Identifier: CA2374774276

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406861_63406862delinsGA , CM000682.2:g.63406861_63406862delinsGA	GRCh38
NC_000020.10:g.62038214_62038215delinsGA , CM000682.1:g.62038214_62038215delinsGA	GRCh37
NC_000020.9:g.61508658_61508659delinsGA	NCBI36
NG_009004.1:g.70779_70780delinsTC
NG_009004.2:g.70779_70780delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2455_2456delinsTC	ENSP00000516702.1:p.Ser819=
ENST00000359125.7:c.2401_2402delinsTC MANE Select	ENSP00000352035.2:p.Ser801=
ENST00000637193.1:c.1798_1799delinsTC	ENSP00000490734.1:p.Ser600=
ENST00000344462.8:c.2308_2309delinsTC	ENSP00000339611.4:p.Ser770=
ENST00000357249.6:c.1969_1970delinsTC	ENSP00000349789.3:p.Ser657=
ENST00000359125.6:c.2401_2402delinsTC	ENSP00000352035.2:p.Ser801=
ENST00000360480.7:c.2317_2318delinsTC	ENSP00000353668.3:p.Ser773=
ENST00000370224.5:c.2241+184_2241+185delinsTC	ENSP00000359244.2:n.2241+184_2241+185delinsTC
ENST00000625514.2:c.2205+184_2205+185delinsTC	ENSP00000486040.1:n.2205+184_2205+185delinsTC
ENST00000626839.2:c.2347_2348delinsTC	ENSP00000486706.1:p.Ser783=
ENST00000629241.2:c.2133+184_2133+185delinsTC	ENSP00000487142.1:n.2133+184_2133+185delinsTC
ENST00000629676.2:c.1680-6019_1680-6018delinsTC	ENSP00000486194.1:n.1680-6019_1680-6018delinsTC
NM_004518.4:c.2317_2318delinsTC	NP_004509.2:p.Ser773=
NM_172106.1:c.2347_2348delinsTC	NP_742104.1:p.Ser783=
NM_172107.2:c.2401_2402delinsTC	NP_742105.1:p.Ser801=
NM_172108.3:c.2308_2309delinsTC	NP_742106.1:p.Ser770=
XM_006723787.1:c.2443_2444delinsTC	XP_006723850.1:p.Ser815=
XM_011528807.1:c.2509_2510delinsTC	XP_011527109.1:p.Ser837=
XM_011528808.1:c.2506_2507delinsTC	XP_011527110.1:p.Ser836=
XM_011528809.1:c.2479_2480delinsTC	XP_011527111.1:p.Ser827=
XM_011528810.1:c.2455_2456delinsTC	XP_011527112.1:p.Ser819=
XM_011528811.1:c.2425_2426delinsTC	XP_011527113.1:p.Ser809=
XM_011528812.1:c.2398_2399delinsTC	XP_011527114.1:p.Ser800=
XM_011528813.1:c.2383_2384delinsTC	XP_011527115.1:p.Ser795=
XM_011528814.1:c.1990_1991delinsTC	XP_011527116.1:p.Ser664=
NM_004518.5:c.2317_2318delinsTC	NP_004509.2:p.Ser773=
NM_172106.2:c.2347_2348delinsTC	NP_742104.1:p.Ser783=
NM_172107.3:c.2401_2402delinsTC	NP_742105.1:p.Ser801=
NM_172108.4:c.2308_2309delinsTC	NP_742106.1:p.Ser770=
XM_011528810.2:c.2455_2456delinsTC	XP_011527112.1:p.Ser819=
XM_011528811.2:c.2425_2426delinsTC	XP_011527113.1:p.Ser809=
XM_017027841.2:c.2452_2453delinsTC	XP_016883330.1:p.Ser818=
XM_017027842.2:c.2389_2390delinsTC	XP_016883331.1:p.Ser797=
XM_017027843.1:c.2386_2387delinsTC	XP_016883332.1:p.Ser796=
XM_017027844.2:c.2344_2345delinsTC	XP_016883333.1:p.Ser782=
XM_017027845.1:c.1417_1418delinsTC	XP_016883334.1:p.Ser473=
NM_004518.6:c.2317_2318delinsTC	NP_004509.2:p.Ser773=
NM_172106.3:c.2347_2348delinsTC	NP_742104.1:p.Ser783=
NM_172107.4:c.2401_2402delinsTC MANE Select	NP_742105.1:p.Ser801=
NM_172108.5:c.2308_2309delinsTC	NP_742106.1:p.Ser770=
NM_001382235.1:c.2455_2456delinsTC	NP_001369164.1:p.Ser819=