Canonical Allele Identifier: CA2374774384

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407040G= , CM000682.2:g.63407040G=	GRCh38
NC_000020.10:g.62038393G= , CM000682.1:g.62038393G=	GRCh37
NC_000020.9:g.61508837G=	NCBI36
NG_009004.1:g.70601C=
NG_009004.2:g.70601C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2277C=	ENSP00000516702.1:p.Arg759=
ENST00000359125.7:c.2223C= MANE Select	ENSP00000352035.2:p.Arg741=
ENST00000637193.1:c.1620C=	ENSP00000490734.1:p.Arg540=
ENST00000344462.8:c.2130C=	ENSP00000339611.4:p.Arg710=
ENST00000357249.6:c.1791C=	ENSP00000349789.3:p.Arg597=
ENST00000359125.6:c.2223C=	ENSP00000352035.2:p.Arg741=
ENST00000360480.7:c.2139C=	ENSP00000353668.3:p.Arg713=
ENST00000370224.5:c.2241+6C=	ENSP00000359244.2:n.2241+6C=
ENST00000625514.2:c.2205+6C=	ENSP00000486040.1:n.2205+6C=
ENST00000626839.2:c.2169C=	ENSP00000486706.1:p.Arg723=
ENST00000629241.2:c.2133+6C=	ENSP00000487142.1:n.2133+6C=
ENST00000629676.2:c.1680-6197C=	ENSP00000486194.1:n.1680-6197C=
NM_004518.4:c.2139C=	NP_004509.2:p.Arg713=
NM_172106.1:c.2169C=	NP_742104.1:p.Arg723=
NM_172107.2:c.2223C=	NP_742105.1:p.Arg741=
NM_172108.3:c.2130C=	NP_742106.1:p.Arg710=
XM_006723787.1:c.2265C=	XP_006723850.1:p.Arg755=
XM_011528807.1:c.2331C=	XP_011527109.1:p.Arg777=
XM_011528808.1:c.2328C=	XP_011527110.1:p.Arg776=
XM_011528809.1:c.2301C=	XP_011527111.1:p.Arg767=
XM_011528810.1:c.2277C=	XP_011527112.1:p.Arg759=
XM_011528811.1:c.2247C=	XP_011527113.1:p.Arg749=
XM_011528812.1:c.2220C=	XP_011527114.1:p.Arg740=
XM_011528813.1:c.2205C=	XP_011527115.1:p.Arg735=
XM_011528814.1:c.1812C=	XP_011527116.1:p.Arg604=
NM_004518.5:c.2139C=	NP_004509.2:p.Arg713=
NM_172106.2:c.2169C=	NP_742104.1:p.Arg723=
NM_172107.3:c.2223C=	NP_742105.1:p.Arg741=
NM_172108.4:c.2130C=	NP_742106.1:p.Arg710=
XM_011528810.2:c.2277C=	XP_011527112.1:p.Arg759=
XM_011528811.2:c.2247C=	XP_011527113.1:p.Arg749=
XM_017027841.2:c.2274C=	XP_016883330.1:p.Arg758=
XM_017027842.2:c.2211C=	XP_016883331.1:p.Arg737=
XM_017027843.1:c.2208C=	XP_016883332.1:p.Arg736=
XM_017027844.2:c.2166C=	XP_016883333.1:p.Arg722=
XM_017027845.1:c.1239C=	XP_016883334.1:p.Arg413=
NM_004518.6:c.2139C=	NP_004509.2:p.Arg713=
NM_172106.3:c.2169C=	NP_742104.1:p.Arg723=
NM_172107.4:c.2223C= MANE Select	NP_742105.1:p.Arg741=
NM_172108.5:c.2130C=	NP_742106.1:p.Arg710=
NM_001382235.1:c.2277C=	NP_001369164.1:p.Arg759=