Canonical Allele Identifier: CA2374774442

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407142C= , CM000682.2:g.63407142C=	GRCh38
NC_000020.10:g.62038495C= , CM000682.1:g.62038495C=	GRCh37
NC_000020.9:g.61508939C=	NCBI36
NG_009004.1:g.70499G=
NG_009004.2:g.70499G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2175G=	ENSP00000516702.1:p.Ala725=
ENST00000359125.7:c.2121G= MANE Select	ENSP00000352035.2:p.Ala707=
ENST00000637193.1:c.1518G=	ENSP00000490734.1:p.Ala506=
ENST00000344462.8:c.2028G=	ENSP00000339611.4:p.Ala676=
ENST00000357249.6:c.1689G=	ENSP00000349789.3:p.Ala563=
ENST00000359125.6:c.2121G=	ENSP00000352035.2:p.Ala707=
ENST00000360480.7:c.2037G=	ENSP00000353668.3:p.Ala679=
ENST00000370224.5:c.2145G=	ENSP00000359244.2:p.Ala715=
ENST00000625514.2:c.2109G=	ENSP00000486040.1:p.Ala703=
ENST00000626839.2:c.2067G=	ENSP00000486706.1:p.Ala689=
ENST00000629241.2:c.2037G=	ENSP00000487142.1:p.Ala679=
ENST00000629676.2:c.1680-6299G=	ENSP00000486194.1:n.1680-6299G=
NM_004518.4:c.2037G=	NP_004509.2:p.Ala679=
NM_172106.1:c.2067G=	NP_742104.1:p.Ala689=
NM_172107.2:c.2121G=	NP_742105.1:p.Ala707=
NM_172108.3:c.2028G=	NP_742106.1:p.Ala676=
XM_006723787.1:c.2163G=	XP_006723850.1:p.Ala721=
XM_011528807.1:c.2229G=	XP_011527109.1:p.Ala743=
XM_011528808.1:c.2226G=	XP_011527110.1:p.Ala742=
XM_011528809.1:c.2199G=	XP_011527111.1:p.Ala733=
XM_011528810.1:c.2175G=	XP_011527112.1:p.Ala725=
XM_011528811.1:c.2145G=	XP_011527113.1:p.Ala715=
XM_011528812.1:c.2118G=	XP_011527114.1:p.Ala706=
XM_011528813.1:c.2103G=	XP_011527115.1:p.Ala701=
XM_011528814.1:c.1710G=	XP_011527116.1:p.Ala570=
NM_004518.5:c.2037G=	NP_004509.2:p.Ala679=
NM_172106.2:c.2067G=	NP_742104.1:p.Ala689=
NM_172107.3:c.2121G=	NP_742105.1:p.Ala707=
NM_172108.4:c.2028G=	NP_742106.1:p.Ala676=
XM_011528810.2:c.2175G=	XP_011527112.1:p.Ala725=
XM_011528811.2:c.2145G=	XP_011527113.1:p.Ala715=
XM_017027841.2:c.2172G=	XP_016883330.1:p.Ala724=
XM_017027842.2:c.2109G=	XP_016883331.1:p.Ala703=
XM_017027843.1:c.2106G=	XP_016883332.1:p.Ala702=
XM_017027844.2:c.2064G=	XP_016883333.1:p.Ala688=
XM_017027845.1:c.1137G=	XP_016883334.1:p.Ala379=
NM_004518.6:c.2037G=	NP_004509.2:p.Ala679=
NM_172106.3:c.2067G=	NP_742104.1:p.Ala689=
NM_172107.4:c.2121G= MANE Select	NP_742105.1:p.Ala707=
NM_172108.5:c.2028G=	NP_742106.1:p.Ala676=
NM_001382235.1:c.2175G=	NP_001369164.1:p.Ala725=