Canonical Allele Identifier: CA2374774286

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406886C= , CM000682.2:g.63406886C=	GRCh38
NC_000020.10:g.62038239C= , CM000682.1:g.62038239C=	GRCh37
NC_000020.9:g.61508683C=	NCBI36
NG_009004.1:g.70755G=
NG_009004.2:g.70755G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2431G=	ENSP00000516702.1:p.Val811=
ENST00000359125.7:c.2377G= MANE Select	ENSP00000352035.2:p.Val793=
ENST00000637193.1:c.1774G=	ENSP00000490734.1:p.Val592=
ENST00000344462.8:c.2284G=	ENSP00000339611.4:p.Val762=
ENST00000357249.6:c.1945G=	ENSP00000349789.3:p.Val649=
ENST00000359125.6:c.2377G=	ENSP00000352035.2:p.Val793=
ENST00000360480.7:c.2293G=	ENSP00000353668.3:p.Val765=
ENST00000370224.5:c.2241+160G=	ENSP00000359244.2:n.2241+160G=
ENST00000625514.2:c.2205+160G=	ENSP00000486040.1:n.2205+160G=
ENST00000626839.2:c.2323G=	ENSP00000486706.1:p.Val775=
ENST00000629241.2:c.2133+160G=	ENSP00000487142.1:n.2133+160G=
ENST00000629676.2:c.1680-6043G=	ENSP00000486194.1:n.1680-6043G=
NM_004518.4:c.2293G=	NP_004509.2:p.Val765=
NM_172106.1:c.2323G=	NP_742104.1:p.Val775=
NM_172107.2:c.2377G=	NP_742105.1:p.Val793=
NM_172108.3:c.2284G=	NP_742106.1:p.Val762=
XM_006723787.1:c.2419G=	XP_006723850.1:p.Val807=
XM_011528807.1:c.2485G=	XP_011527109.1:p.Val829=
XM_011528808.1:c.2482G=	XP_011527110.1:p.Val828=
XM_011528809.1:c.2455G=	XP_011527111.1:p.Val819=
XM_011528810.1:c.2431G=	XP_011527112.1:p.Val811=
XM_011528811.1:c.2401G=	XP_011527113.1:p.Val801=
XM_011528812.1:c.2374G=	XP_011527114.1:p.Val792=
XM_011528813.1:c.2359G=	XP_011527115.1:p.Val787=
XM_011528814.1:c.1966G=	XP_011527116.1:p.Val656=
NM_004518.5:c.2293G=	NP_004509.2:p.Val765=
NM_172106.2:c.2323G=	NP_742104.1:p.Val775=
NM_172107.3:c.2377G=	NP_742105.1:p.Val793=
NM_172108.4:c.2284G=	NP_742106.1:p.Val762=
XM_011528810.2:c.2431G=	XP_011527112.1:p.Val811=
XM_011528811.2:c.2401G=	XP_011527113.1:p.Val801=
XM_017027841.2:c.2428G=	XP_016883330.1:p.Val810=
XM_017027842.2:c.2365G=	XP_016883331.1:p.Val789=
XM_017027843.1:c.2362G=	XP_016883332.1:p.Val788=
XM_017027844.2:c.2320G=	XP_016883333.1:p.Val774=
XM_017027845.1:c.1393G=	XP_016883334.1:p.Val465=
NM_004518.6:c.2293G=	NP_004509.2:p.Val765=
NM_172106.3:c.2323G=	NP_742104.1:p.Val775=
NM_172107.4:c.2377G= MANE Select	NP_742105.1:p.Val793=
NM_172108.5:c.2284G=	NP_742106.1:p.Val762=
NM_001382235.1:c.2431G=	NP_001369164.1:p.Val811=