Canonical Allele Identifier: CA2374774331

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406951G= , CM000682.2:g.63406951G=	GRCh38
NC_000020.10:g.62038304G= , CM000682.1:g.62038304G=	GRCh37
NC_000020.9:g.61508748G=	NCBI36
NG_009004.1:g.70690C=
NG_009004.2:g.70690C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2366C=	ENSP00000516702.1:p.Thr789=
ENST00000359125.7:c.2312C= MANE Select	ENSP00000352035.2:p.Thr771=
ENST00000637193.1:c.1709C=	ENSP00000490734.1:p.Thr570=
ENST00000344462.8:c.2219C=	ENSP00000339611.4:p.Thr740=
ENST00000357249.6:c.1880C=	ENSP00000349789.3:p.Thr627=
ENST00000359125.6:c.2312C=	ENSP00000352035.2:p.Thr771=
ENST00000360480.7:c.2228C=	ENSP00000353668.3:p.Thr743=
ENST00000370224.5:c.2241+95C=	ENSP00000359244.2:n.2241+95C=
ENST00000625514.2:c.2205+95C=	ENSP00000486040.1:n.2205+95C=
ENST00000626839.2:c.2258C=	ENSP00000486706.1:p.Thr753=
ENST00000629241.2:c.2133+95C=	ENSP00000487142.1:n.2133+95C=
ENST00000629676.2:c.1680-6108C=	ENSP00000486194.1:n.1680-6108C=
NM_004518.4:c.2228C=	NP_004509.2:p.Thr743=
NM_172106.1:c.2258C=	NP_742104.1:p.Thr753=
NM_172107.2:c.2312C=	NP_742105.1:p.Thr771=
NM_172108.3:c.2219C=	NP_742106.1:p.Thr740=
XM_006723787.1:c.2354C=	XP_006723850.1:p.Thr785=
XM_011528807.1:c.2420C=	XP_011527109.1:p.Thr807=
XM_011528808.1:c.2417C=	XP_011527110.1:p.Thr806=
XM_011528809.1:c.2390C=	XP_011527111.1:p.Thr797=
XM_011528810.1:c.2366C=	XP_011527112.1:p.Thr789=
XM_011528811.1:c.2336C=	XP_011527113.1:p.Thr779=
XM_011528812.1:c.2309C=	XP_011527114.1:p.Thr770=
XM_011528813.1:c.2294C=	XP_011527115.1:p.Thr765=
XM_011528814.1:c.1901C=	XP_011527116.1:p.Thr634=
NM_004518.5:c.2228C=	NP_004509.2:p.Thr743=
NM_172106.2:c.2258C=	NP_742104.1:p.Thr753=
NM_172107.3:c.2312C=	NP_742105.1:p.Thr771=
NM_172108.4:c.2219C=	NP_742106.1:p.Thr740=
XM_011528810.2:c.2366C=	XP_011527112.1:p.Thr789=
XM_011528811.2:c.2336C=	XP_011527113.1:p.Thr779=
XM_017027841.2:c.2363C=	XP_016883330.1:p.Thr788=
XM_017027842.2:c.2300C=	XP_016883331.1:p.Thr767=
XM_017027843.1:c.2297C=	XP_016883332.1:p.Thr766=
XM_017027844.2:c.2255C=	XP_016883333.1:p.Thr752=
XM_017027845.1:c.1328C=	XP_016883334.1:p.Thr443=
NM_004518.6:c.2228C=	NP_004509.2:p.Thr743=
NM_172106.3:c.2258C=	NP_742104.1:p.Thr753=
NM_172107.4:c.2312C= MANE Select	NP_742105.1:p.Thr771=
NM_172108.5:c.2219C=	NP_742106.1:p.Thr740=
NM_001382235.1:c.2366C=	NP_001369164.1:p.Thr789=