Canonical Allele Identifier: CA2374774275

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406859A= , CM000682.2:g.63406859A=	GRCh38
NC_000020.10:g.62038212A= , CM000682.1:g.62038212A=	GRCh37
NC_000020.9:g.61508656A=	NCBI36
NG_009004.1:g.70782T=
NG_009004.2:g.70782T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2458T=	ENSP00000516702.1:p.Phe820=
ENST00000359125.7:c.2404T= MANE Select	ENSP00000352035.2:p.Phe802=
ENST00000637193.1:c.1801T=	ENSP00000490734.1:p.Phe601=
ENST00000344462.8:c.2311T=	ENSP00000339611.4:p.Phe771=
ENST00000357249.6:c.1972T=	ENSP00000349789.3:p.Phe658=
ENST00000359125.6:c.2404T=	ENSP00000352035.2:p.Phe802=
ENST00000360480.7:c.2320T=	ENSP00000353668.3:p.Phe774=
ENST00000370224.5:c.2241+187T=	ENSP00000359244.2:n.2241+187T=
ENST00000625514.2:c.2205+187T=	ENSP00000486040.1:n.2205+187T=
ENST00000626839.2:c.2350T=	ENSP00000486706.1:p.Phe784=
ENST00000629241.2:c.2133+187T=	ENSP00000487142.1:n.2133+187T=
ENST00000629676.2:c.1680-6016T=	ENSP00000486194.1:n.1680-6016T=
NM_004518.4:c.2320T=	NP_004509.2:p.Phe774=
NM_172106.1:c.2350T=	NP_742104.1:p.Phe784=
NM_172107.2:c.2404T=	NP_742105.1:p.Phe802=
NM_172108.3:c.2311T=	NP_742106.1:p.Phe771=
XM_006723787.1:c.2446T=	XP_006723850.1:p.Phe816=
XM_011528807.1:c.2512T=	XP_011527109.1:p.Phe838=
XM_011528808.1:c.2509T=	XP_011527110.1:p.Phe837=
XM_011528809.1:c.2482T=	XP_011527111.1:p.Phe828=
XM_011528810.1:c.2458T=	XP_011527112.1:p.Phe820=
XM_011528811.1:c.2428T=	XP_011527113.1:p.Phe810=
XM_011528812.1:c.2401T=	XP_011527114.1:p.Phe801=
XM_011528813.1:c.2386T=	XP_011527115.1:p.Phe796=
XM_011528814.1:c.1993T=	XP_011527116.1:p.Phe665=
NM_004518.5:c.2320T=	NP_004509.2:p.Phe774=
NM_172106.2:c.2350T=	NP_742104.1:p.Phe784=
NM_172107.3:c.2404T=	NP_742105.1:p.Phe802=
NM_172108.4:c.2311T=	NP_742106.1:p.Phe771=
XM_011528810.2:c.2458T=	XP_011527112.1:p.Phe820=
XM_011528811.2:c.2428T=	XP_011527113.1:p.Phe810=
XM_017027841.2:c.2455T=	XP_016883330.1:p.Phe819=
XM_017027842.2:c.2392T=	XP_016883331.1:p.Phe798=
XM_017027843.1:c.2389T=	XP_016883332.1:p.Phe797=
XM_017027844.2:c.2347T=	XP_016883333.1:p.Phe783=
XM_017027845.1:c.1420T=	XP_016883334.1:p.Phe474=
NM_004518.6:c.2320T=	NP_004509.2:p.Phe774=
NM_172106.3:c.2350T=	NP_742104.1:p.Phe784=
NM_172107.4:c.2404T= MANE Select	NP_742105.1:p.Phe802=
NM_172108.5:c.2311T=	NP_742106.1:p.Phe771=
NM_001382235.1:c.2458T=	NP_001369164.1:p.Phe820=