Canonical Allele Identifier: CA2374774358

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406999_63407000delinsTA , CM000682.2:g.63406999_63407000delinsTA	GRCh38
NC_000020.10:g.62038352_62038353delinsTA , CM000682.1:g.62038352_62038353delinsTA	GRCh37
NC_000020.9:g.61508796_61508797delinsTA	NCBI36
NG_009004.1:g.70641_70642delinsTA
NG_009004.2:g.70641_70642delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2317_2318delinsTA	ENSP00000516702.1:p.Tyr773=
ENST00000359125.7:c.2263_2264delinsTA MANE Select	ENSP00000352035.2:p.Tyr755=
ENST00000637193.1:c.1660_1661delinsTA	ENSP00000490734.1:p.Tyr554=
ENST00000344462.8:c.2170_2171delinsTA	ENSP00000339611.4:p.Tyr724=
ENST00000357249.6:c.1831_1832delinsTA	ENSP00000349789.3:p.Tyr611=
ENST00000359125.6:c.2263_2264delinsTA	ENSP00000352035.2:p.Tyr755=
ENST00000360480.7:c.2179_2180delinsTA	ENSP00000353668.3:p.Tyr727=
ENST00000370224.5:c.2241+46_2241+47delinsTA	ENSP00000359244.2:n.2241+46_2241+47delinsTA
ENST00000625514.2:c.2205+46_2205+47delinsTA	ENSP00000486040.1:n.2205+46_2205+47delinsTA
ENST00000626839.2:c.2209_2210delinsTA	ENSP00000486706.1:p.Tyr737=
ENST00000629241.2:c.2133+46_2133+47delinsTA	ENSP00000487142.1:n.2133+46_2133+47delinsTA
ENST00000629676.2:c.1680-6157_1680-6156delinsTA	ENSP00000486194.1:n.1680-6157_1680-6156delinsTA
NM_004518.4:c.2179_2180delinsTA	NP_004509.2:p.Tyr727=
NM_172106.1:c.2209_2210delinsTA	NP_742104.1:p.Tyr737=
NM_172107.2:c.2263_2264delinsTA	NP_742105.1:p.Tyr755=
NM_172108.3:c.2170_2171delinsTA	NP_742106.1:p.Tyr724=
XM_006723787.1:c.2305_2306delinsTA	XP_006723850.1:p.Tyr769=
XM_011528807.1:c.2371_2372delinsTA	XP_011527109.1:p.Tyr791=
XM_011528808.1:c.2368_2369delinsTA	XP_011527110.1:p.Tyr790=
XM_011528809.1:c.2341_2342delinsTA	XP_011527111.1:p.Tyr781=
XM_011528810.1:c.2317_2318delinsTA	XP_011527112.1:p.Tyr773=
XM_011528811.1:c.2287_2288delinsTA	XP_011527113.1:p.Tyr763=
XM_011528812.1:c.2260_2261delinsTA	XP_011527114.1:p.Tyr754=
XM_011528813.1:c.2245_2246delinsTA	XP_011527115.1:p.Tyr749=
XM_011528814.1:c.1852_1853delinsTA	XP_011527116.1:p.Tyr618=
NM_004518.5:c.2179_2180delinsTA	NP_004509.2:p.Tyr727=
NM_172106.2:c.2209_2210delinsTA	NP_742104.1:p.Tyr737=
NM_172107.3:c.2263_2264delinsTA	NP_742105.1:p.Tyr755=
NM_172108.4:c.2170_2171delinsTA	NP_742106.1:p.Tyr724=
XM_011528810.2:c.2317_2318delinsTA	XP_011527112.1:p.Tyr773=
XM_011528811.2:c.2287_2288delinsTA	XP_011527113.1:p.Tyr763=
XM_017027841.2:c.2314_2315delinsTA	XP_016883330.1:p.Tyr772=
XM_017027842.2:c.2251_2252delinsTA	XP_016883331.1:p.Tyr751=
XM_017027843.1:c.2248_2249delinsTA	XP_016883332.1:p.Tyr750=
XM_017027844.2:c.2206_2207delinsTA	XP_016883333.1:p.Tyr736=
XM_017027845.1:c.1279_1280delinsTA	XP_016883334.1:p.Tyr427=
NM_004518.6:c.2179_2180delinsTA	NP_004509.2:p.Tyr727=
NM_172106.3:c.2209_2210delinsTA	NP_742104.1:p.Tyr737=
NM_172107.4:c.2263_2264delinsTA MANE Select	NP_742105.1:p.Tyr755=
NM_172108.5:c.2170_2171delinsTA	NP_742106.1:p.Tyr724=
NM_001382235.1:c.2317_2318delinsTA	NP_001369164.1:p.Tyr773=