Canonical Allele Identifier: CA2374774345

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406977G= , CM000682.2:g.63406977G=	GRCh38
NC_000020.10:g.62038330G= , CM000682.1:g.62038330G=	GRCh37
NC_000020.9:g.61508774G=	NCBI36
NG_009004.1:g.70664C=
NG_009004.2:g.70664C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2340C=	ENSP00000516702.1:p.Ser780=
ENST00000359125.7:c.2286C= MANE Select	ENSP00000352035.2:p.Ser762=
ENST00000637193.1:c.1683C=	ENSP00000490734.1:p.Ser561=
ENST00000344462.8:c.2193C=	ENSP00000339611.4:p.Ser731=
ENST00000357249.6:c.1854C=	ENSP00000349789.3:p.Ser618=
ENST00000359125.6:c.2286C=	ENSP00000352035.2:p.Ser762=
ENST00000360480.7:c.2202C=	ENSP00000353668.3:p.Ser734=
ENST00000370224.5:c.2241+69C=	ENSP00000359244.2:n.2241+69C=
ENST00000625514.2:c.2205+69C=	ENSP00000486040.1:n.2205+69C=
ENST00000626839.2:c.2232C=	ENSP00000486706.1:p.Ser744=
ENST00000629241.2:c.2133+69C=	ENSP00000487142.1:n.2133+69C=
ENST00000629676.2:c.1680-6134C=	ENSP00000486194.1:n.1680-6134C=
NM_004518.4:c.2202C=	NP_004509.2:p.Ser734=
NM_172106.1:c.2232C=	NP_742104.1:p.Ser744=
NM_172107.2:c.2286C=	NP_742105.1:p.Ser762=
NM_172108.3:c.2193C=	NP_742106.1:p.Ser731=
XM_006723787.1:c.2328C=	XP_006723850.1:p.Ser776=
XM_011528807.1:c.2394C=	XP_011527109.1:p.Ser798=
XM_011528808.1:c.2391C=	XP_011527110.1:p.Ser797=
XM_011528809.1:c.2364C=	XP_011527111.1:p.Ser788=
XM_011528810.1:c.2340C=	XP_011527112.1:p.Ser780=
XM_011528811.1:c.2310C=	XP_011527113.1:p.Ser770=
XM_011528812.1:c.2283C=	XP_011527114.1:p.Ser761=
XM_011528813.1:c.2268C=	XP_011527115.1:p.Ser756=
XM_011528814.1:c.1875C=	XP_011527116.1:p.Ser625=
NM_004518.5:c.2202C=	NP_004509.2:p.Ser734=
NM_172106.2:c.2232C=	NP_742104.1:p.Ser744=
NM_172107.3:c.2286C=	NP_742105.1:p.Ser762=
NM_172108.4:c.2193C=	NP_742106.1:p.Ser731=
XM_011528810.2:c.2340C=	XP_011527112.1:p.Ser780=
XM_011528811.2:c.2310C=	XP_011527113.1:p.Ser770=
XM_017027841.2:c.2337C=	XP_016883330.1:p.Ser779=
XM_017027842.2:c.2274C=	XP_016883331.1:p.Ser758=
XM_017027843.1:c.2271C=	XP_016883332.1:p.Ser757=
XM_017027844.2:c.2229C=	XP_016883333.1:p.Ser743=
XM_017027845.1:c.1302C=	XP_016883334.1:p.Ser434=
NM_004518.6:c.2202C=	NP_004509.2:p.Ser734=
NM_172106.3:c.2232C=	NP_742104.1:p.Ser744=
NM_172107.4:c.2286C= MANE Select	NP_742105.1:p.Ser762=
NM_172108.5:c.2193C=	NP_742106.1:p.Ser731=
NM_001382235.1:c.2340C=	NP_001369164.1:p.Ser780=