Canonical Allele Identifier: CA1139666804

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 930306
• ClinVar RCV Id: RCV001195865
• dbSNP Id: rs2079961255

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406977_63406991del , CM000682.2:g.63406977_63406991del	GRCh38
NC_000020.10:g.62038330_62038344del , CM000682.1:g.62038330_62038344del	GRCh37
NC_000020.9:g.61508774_61508788del	NCBI36
NG_009004.1:g.70650_70664del
NG_009004.2:g.70650_70664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2326_2340del	ENSP00000516702.1:p.Gly776_Ser780del
ENST00000359125.7:c.2272_2286del MANE Select	ENSP00000352035.2:p.Gly758_Ser762del
ENST00000637193.1:c.1669_1683del	ENSP00000490734.1:p.Gly557_Ser561del
ENST00000344462.8:c.2179_2193del	ENSP00000339611.4:p.Gly727_Ser731del
ENST00000357249.6:c.1840_1854del	ENSP00000349789.3:p.Gly614_Ser618del
ENST00000359125.6:c.2272_2286del	ENSP00000352035.2:p.Gly758_Ser762del
ENST00000360480.7:c.2188_2202del	ENSP00000353668.3:p.Gly730_Ser734del
ENST00000370224.5:c.2241+55_2241+69del	ENSP00000359244.2:n.2241+55_2241+69del
ENST00000625514.2:c.2205+55_2205+69del	ENSP00000486040.1:n.2205+55_2205+69del
ENST00000626839.2:c.2218_2232del	ENSP00000486706.1:p.Gly740_Ser744del
ENST00000629241.2:c.2133+55_2133+69del	ENSP00000487142.1:n.2133+55_2133+69del
ENST00000629676.2:c.1680-6148_1680-6134del	ENSP00000486194.1:n.1680-6148_1680-6134del
NM_004518.4:c.2188_2202del	NP_004509.2:p.Gly730_Ser734del
NM_172106.1:c.2218_2232del	NP_742104.1:p.Gly740_Ser744del
NM_172107.2:c.2272_2286del	NP_742105.1:p.Gly758_Ser762del
NM_172108.3:c.2179_2193del	NP_742106.1:p.Gly727_Ser731del
XM_006723787.1:c.2314_2328del	XP_006723850.1:p.Gly772_Ser776del
XM_011528807.1:c.2380_2394del	XP_011527109.1:p.Gly794_Ser798del
XM_011528808.1:c.2377_2391del	XP_011527110.1:p.Gly793_Ser797del
XM_011528809.1:c.2350_2364del	XP_011527111.1:p.Gly784_Ser788del
XM_011528810.1:c.2326_2340del	XP_011527112.1:p.Gly776_Ser780del
XM_011528811.1:c.2296_2310del	XP_011527113.1:p.Gly766_Ser770del
XM_011528812.1:c.2269_2283del	XP_011527114.1:p.Gly757_Ser761del
XM_011528813.1:c.2254_2268del	XP_011527115.1:p.Gly752_Ser756del
XM_011528814.1:c.1861_1875del	XP_011527116.1:p.Gly621_Ser625del
NM_004518.5:c.2188_2202del	NP_004509.2:p.Gly730_Ser734del
NM_172106.2:c.2218_2232del	NP_742104.1:p.Gly740_Ser744del
NM_172107.3:c.2272_2286del	NP_742105.1:p.Gly758_Ser762del
NM_172108.4:c.2179_2193del	NP_742106.1:p.Gly727_Ser731del
XM_011528810.2:c.2326_2340del	XP_011527112.1:p.Gly776_Ser780del
XM_011528811.2:c.2296_2310del	XP_011527113.1:p.Gly766_Ser770del
XM_017027841.2:c.2323_2337del	XP_016883330.1:p.Gly775_Ser779del
XM_017027842.2:c.2260_2274del	XP_016883331.1:p.Gly754_Ser758del
XM_017027843.1:c.2257_2271del	XP_016883332.1:p.Gly753_Ser757del
XM_017027844.2:c.2215_2229del	XP_016883333.1:p.Gly739_Ser743del
XM_017027845.1:c.1288_1302del	XP_016883334.1:p.Gly430_Ser434del
NM_004518.6:c.2188_2202del	NP_004509.2:p.Gly730_Ser734del
NM_172106.3:c.2218_2232del	NP_742104.1:p.Gly740_Ser744del
NM_172107.4:c.2272_2286del MANE Select	NP_742105.1:p.Gly758_Ser762del
NM_172108.5:c.2179_2193del	NP_742106.1:p.Gly727_Ser731del
NM_001382235.1:c.2326_2340del	NP_001369164.1:p.Gly776_Ser780del