Canonical Allele Identifier: CA2374774362

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407003C= , CM000682.2:g.63407003C=	GRCh38
NC_000020.10:g.62038356C= , CM000682.1:g.62038356C=	GRCh37
NC_000020.9:g.61508800C=	NCBI36
NG_009004.1:g.70638G=
NG_009004.2:g.70638G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2314G=	ENSP00000516702.1:p.Ala772=
ENST00000359125.7:c.2260G= MANE Select	ENSP00000352035.2:p.Ala754=
ENST00000637193.1:c.1657G=	ENSP00000490734.1:p.Ala553=
ENST00000344462.8:c.2167G=	ENSP00000339611.4:p.Ala723=
ENST00000357249.6:c.1828G=	ENSP00000349789.3:p.Ala610=
ENST00000359125.6:c.2260G=	ENSP00000352035.2:p.Ala754=
ENST00000360480.7:c.2176G=	ENSP00000353668.3:p.Ala726=
ENST00000370224.5:c.2241+43G=	ENSP00000359244.2:n.2241+43G=
ENST00000625514.2:c.2205+43G=	ENSP00000486040.1:n.2205+43G=
ENST00000626839.2:c.2206G=	ENSP00000486706.1:p.Ala736=
ENST00000629241.2:c.2133+43G=	ENSP00000487142.1:n.2133+43G=
ENST00000629676.2:c.1680-6160G=	ENSP00000486194.1:n.1680-6160G=
NM_004518.4:c.2176G=	NP_004509.2:p.Ala726=
NM_172106.1:c.2206G=	NP_742104.1:p.Ala736=
NM_172107.2:c.2260G=	NP_742105.1:p.Ala754=
NM_172108.3:c.2167G=	NP_742106.1:p.Ala723=
XM_006723787.1:c.2302G=	XP_006723850.1:p.Ala768=
XM_011528807.1:c.2368G=	XP_011527109.1:p.Ala790=
XM_011528808.1:c.2365G=	XP_011527110.1:p.Ala789=
XM_011528809.1:c.2338G=	XP_011527111.1:p.Ala780=
XM_011528810.1:c.2314G=	XP_011527112.1:p.Ala772=
XM_011528811.1:c.2284G=	XP_011527113.1:p.Ala762=
XM_011528812.1:c.2257G=	XP_011527114.1:p.Ala753=
XM_011528813.1:c.2242G=	XP_011527115.1:p.Ala748=
XM_011528814.1:c.1849G=	XP_011527116.1:p.Ala617=
NM_004518.5:c.2176G=	NP_004509.2:p.Ala726=
NM_172106.2:c.2206G=	NP_742104.1:p.Ala736=
NM_172107.3:c.2260G=	NP_742105.1:p.Ala754=
NM_172108.4:c.2167G=	NP_742106.1:p.Ala723=
XM_011528810.2:c.2314G=	XP_011527112.1:p.Ala772=
XM_011528811.2:c.2284G=	XP_011527113.1:p.Ala762=
XM_017027841.2:c.2311G=	XP_016883330.1:p.Ala771=
XM_017027842.2:c.2248G=	XP_016883331.1:p.Ala750=
XM_017027843.1:c.2245G=	XP_016883332.1:p.Ala749=
XM_017027844.2:c.2203G=	XP_016883333.1:p.Ala735=
XM_017027845.1:c.1276G=	XP_016883334.1:p.Ala426=
NM_004518.6:c.2176G=	NP_004509.2:p.Ala726=
NM_172106.3:c.2206G=	NP_742104.1:p.Ala736=
NM_172107.4:c.2260G= MANE Select	NP_742105.1:p.Ala754=
NM_172108.5:c.2167G=	NP_742106.1:p.Ala723=
NM_001382235.1:c.2314G=	NP_001369164.1:p.Ala772=