Canonical Allele Identifier: CA2374774458

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407160G= , CM000682.2:g.63407160G=	GRCh38
NC_000020.10:g.62038513G= , CM000682.1:g.62038513G=	GRCh37
NC_000020.9:g.61508957G=	NCBI36
NG_009004.1:g.70481C=
NG_009004.2:g.70481C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2157C=	ENSP00000516702.1:p.Phe719=
ENST00000359125.7:c.2103C= MANE Select	ENSP00000352035.2:p.Phe701=
ENST00000637193.1:c.1500C=	ENSP00000490734.1:p.Phe500=
ENST00000344462.8:c.2010C=	ENSP00000339611.4:p.Phe670=
ENST00000357249.6:c.1671C=	ENSP00000349789.3:p.Phe557=
ENST00000359125.6:c.2103C=	ENSP00000352035.2:p.Phe701=
ENST00000360480.7:c.2019C=	ENSP00000353668.3:p.Phe673=
ENST00000370224.5:c.2127C=	ENSP00000359244.2:p.Phe709=
ENST00000625514.2:c.2091C=	ENSP00000486040.1:p.Phe697=
ENST00000626839.2:c.2049C=	ENSP00000486706.1:p.Phe683=
ENST00000629241.2:c.2019C=	ENSP00000487142.1:p.Phe673=
ENST00000629676.2:c.1679+6290C=	ENSP00000486194.1:n.1679+6290C=
NM_004518.4:c.2019C=	NP_004509.2:p.Phe673=
NM_172106.1:c.2049C=	NP_742104.1:p.Phe683=
NM_172107.2:c.2103C=	NP_742105.1:p.Phe701=
NM_172108.3:c.2010C=	NP_742106.1:p.Phe670=
XM_006723787.1:c.2145C=	XP_006723850.1:p.Phe715=
XM_011528807.1:c.2211C=	XP_011527109.1:p.Phe737=
XM_011528808.1:c.2208C=	XP_011527110.1:p.Phe736=
XM_011528809.1:c.2181C=	XP_011527111.1:p.Phe727=
XM_011528810.1:c.2157C=	XP_011527112.1:p.Phe719=
XM_011528811.1:c.2127C=	XP_011527113.1:p.Phe709=
XM_011528812.1:c.2100C=	XP_011527114.1:p.Phe700=
XM_011528813.1:c.2085C=	XP_011527115.1:p.Phe695=
XM_011528814.1:c.1692C=	XP_011527116.1:p.Phe564=
NM_004518.5:c.2019C=	NP_004509.2:p.Phe673=
NM_172106.2:c.2049C=	NP_742104.1:p.Phe683=
NM_172107.3:c.2103C=	NP_742105.1:p.Phe701=
NM_172108.4:c.2010C=	NP_742106.1:p.Phe670=
XM_011528810.2:c.2157C=	XP_011527112.1:p.Phe719=
XM_011528811.2:c.2127C=	XP_011527113.1:p.Phe709=
XM_017027841.2:c.2154C=	XP_016883330.1:p.Phe718=
XM_017027842.2:c.2091C=	XP_016883331.1:p.Phe697=
XM_017027843.1:c.2088C=	XP_016883332.1:p.Phe696=
XM_017027844.2:c.2046C=	XP_016883333.1:p.Phe682=
XM_017027845.1:c.1119C=	XP_016883334.1:p.Phe373=
NM_004518.6:c.2019C=	NP_004509.2:p.Phe673=
NM_172106.3:c.2049C=	NP_742104.1:p.Phe683=
NM_172107.4:c.2103C= MANE Select	NP_742105.1:p.Phe701=
NM_172108.5:c.2010C=	NP_742106.1:p.Phe670=
NM_001382235.1:c.2157C=	NP_001369164.1:p.Phe719=