Canonical Allele Identifier: CA2374774505

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407240C= , CM000682.2:g.63407240C=	GRCh38
NC_000020.10:g.62038593C= , CM000682.1:g.62038593C=	GRCh37
NC_000020.9:g.61509037C=	NCBI36
NG_009004.1:g.70401G=
NG_009004.2:g.70401G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2077G=	ENSP00000516702.1:p.Asp693=
ENST00000359125.7:c.2023G= MANE Select	ENSP00000352035.2:p.Asp675=
ENST00000637193.1:c.1420G=	ENSP00000490734.1:p.Asp474=
ENST00000344462.8:c.1930G=	ENSP00000339611.4:p.Asp644=
ENST00000357249.6:c.1591G=	ENSP00000349789.3:p.Asp531=
ENST00000359125.6:c.2023G=	ENSP00000352035.2:p.Asp675=
ENST00000360480.7:c.1939G=	ENSP00000353668.3:p.Asp647=
ENST00000370224.5:c.2047G=	ENSP00000359244.2:p.Asp683=
ENST00000625514.2:c.2011G=	ENSP00000486040.1:p.Asp671=
ENST00000626839.2:c.1969G=	ENSP00000486706.1:p.Asp657=
ENST00000629241.2:c.1939G=	ENSP00000487142.1:p.Asp647=
ENST00000629676.2:c.1679+6210G=	ENSP00000486194.1:n.1679+6210G=
NM_004518.4:c.1939G=	NP_004509.2:p.Asp647=
NM_172106.1:c.1969G=	NP_742104.1:p.Asp657=
NM_172107.2:c.2023G=	NP_742105.1:p.Asp675=
NM_172108.3:c.1930G=	NP_742106.1:p.Asp644=
XM_006723787.1:c.2065G=	XP_006723850.1:p.Asp689=
XM_011528807.1:c.2131G=	XP_011527109.1:p.Asp711=
XM_011528808.1:c.2128G=	XP_011527110.1:p.Asp710=
XM_011528809.1:c.2101G=	XP_011527111.1:p.Asp701=
XM_011528810.1:c.2077G=	XP_011527112.1:p.Asp693=
XM_011528811.1:c.2047G=	XP_011527113.1:p.Asp683=
XM_011528812.1:c.2020G=	XP_011527114.1:p.Asp674=
XM_011528813.1:c.2005G=	XP_011527115.1:p.Asp669=
XM_011528814.1:c.1612G=	XP_011527116.1:p.Asp538=
NM_004518.5:c.1939G=	NP_004509.2:p.Asp647=
NM_172106.2:c.1969G=	NP_742104.1:p.Asp657=
NM_172107.3:c.2023G=	NP_742105.1:p.Asp675=
NM_172108.4:c.1930G=	NP_742106.1:p.Asp644=
XM_011528810.2:c.2077G=	XP_011527112.1:p.Asp693=
XM_011528811.2:c.2047G=	XP_011527113.1:p.Asp683=
XM_017027841.2:c.2074G=	XP_016883330.1:p.Asp692=
XM_017027842.2:c.2011G=	XP_016883331.1:p.Asp671=
XM_017027843.1:c.2008G=	XP_016883332.1:p.Asp670=
XM_017027844.2:c.1966G=	XP_016883333.1:p.Asp656=
XM_017027845.1:c.1039G=	XP_016883334.1:p.Asp347=
NM_004518.6:c.1939G=	NP_004509.2:p.Asp647=
NM_172106.3:c.1969G=	NP_742104.1:p.Asp657=
NM_172107.4:c.2023G= MANE Select	NP_742105.1:p.Asp675=
NM_172108.5:c.1930G=	NP_742106.1:p.Asp644=
NM_001382235.1:c.2077G=	NP_001369164.1:p.Asp693=