Canonical Allele Identifier: CA2374774300

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406911G= , CM000682.2:g.63406911G=	GRCh38
NC_000020.10:g.62038264G= , CM000682.1:g.62038264G=	GRCh37
NC_000020.9:g.61508708G=	NCBI36
NG_009004.1:g.70730C=
NG_009004.2:g.70730C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2406C=	ENSP00000516702.1:p.Ser802=
ENST00000359125.7:c.2352C= MANE Select	ENSP00000352035.2:p.Ser784=
ENST00000637193.1:c.1749C=	ENSP00000490734.1:p.Ser583=
ENST00000344462.8:c.2259C=	ENSP00000339611.4:p.Ser753=
ENST00000357249.6:c.1920C=	ENSP00000349789.3:p.Ser640=
ENST00000359125.6:c.2352C=	ENSP00000352035.2:p.Ser784=
ENST00000360480.7:c.2268C=	ENSP00000353668.3:p.Ser756=
ENST00000370224.5:c.2241+135C=	ENSP00000359244.2:n.2241+135C=
ENST00000625514.2:c.2205+135C=	ENSP00000486040.1:n.2205+135C=
ENST00000626839.2:c.2298C=	ENSP00000486706.1:p.Ser766=
ENST00000629241.2:c.2133+135C=	ENSP00000487142.1:n.2133+135C=
ENST00000629676.2:c.1680-6068C=	ENSP00000486194.1:n.1680-6068C=
NM_004518.4:c.2268C=	NP_004509.2:p.Ser756=
NM_172106.1:c.2298C=	NP_742104.1:p.Ser766=
NM_172107.2:c.2352C=	NP_742105.1:p.Ser784=
NM_172108.3:c.2259C=	NP_742106.1:p.Ser753=
XM_006723787.1:c.2394C=	XP_006723850.1:p.Ser798=
XM_011528807.1:c.2460C=	XP_011527109.1:p.Ser820=
XM_011528808.1:c.2457C=	XP_011527110.1:p.Ser819=
XM_011528809.1:c.2430C=	XP_011527111.1:p.Ser810=
XM_011528810.1:c.2406C=	XP_011527112.1:p.Ser802=
XM_011528811.1:c.2376C=	XP_011527113.1:p.Ser792=
XM_011528812.1:c.2349C=	XP_011527114.1:p.Ser783=
XM_011528813.1:c.2334C=	XP_011527115.1:p.Ser778=
XM_011528814.1:c.1941C=	XP_011527116.1:p.Ser647=
NM_004518.5:c.2268C=	NP_004509.2:p.Ser756=
NM_172106.2:c.2298C=	NP_742104.1:p.Ser766=
NM_172107.3:c.2352C=	NP_742105.1:p.Ser784=
NM_172108.4:c.2259C=	NP_742106.1:p.Ser753=
XM_011528810.2:c.2406C=	XP_011527112.1:p.Ser802=
XM_011528811.2:c.2376C=	XP_011527113.1:p.Ser792=
XM_017027841.2:c.2403C=	XP_016883330.1:p.Ser801=
XM_017027842.2:c.2340C=	XP_016883331.1:p.Ser780=
XM_017027843.1:c.2337C=	XP_016883332.1:p.Ser779=
XM_017027844.2:c.2295C=	XP_016883333.1:p.Ser765=
XM_017027845.1:c.1368C=	XP_016883334.1:p.Ser456=
NM_004518.6:c.2268C=	NP_004509.2:p.Ser756=
NM_172106.3:c.2298C=	NP_742104.1:p.Ser766=
NM_172107.4:c.2352C= MANE Select	NP_742105.1:p.Ser784=
NM_172108.5:c.2259C=	NP_742106.1:p.Ser753=
NM_001382235.1:c.2406C=	NP_001369164.1:p.Ser802=