Canonical Allele Identifier: CA2374774479

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407192G= , CM000682.2:g.63407192G=	GRCh38
NC_000020.10:g.62038545G= , CM000682.1:g.62038545G=	GRCh37
NC_000020.9:g.61508989G=	NCBI36
NG_009004.1:g.70449C=
NG_009004.2:g.70449C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2125C=	ENSP00000516702.1:p.Arg709=
ENST00000359125.7:c.2071C= MANE Select	ENSP00000352035.2:p.Arg691=
ENST00000637193.1:c.1468C=	ENSP00000490734.1:p.Arg490=
ENST00000344462.8:c.1978C=	ENSP00000339611.4:p.Arg660=
ENST00000357249.6:c.1639C=	ENSP00000349789.3:p.Arg547=
ENST00000359125.6:c.2071C=	ENSP00000352035.2:p.Arg691=
ENST00000360480.7:c.1987C=	ENSP00000353668.3:p.Arg663=
ENST00000370224.5:c.2095C=	ENSP00000359244.2:p.Arg699=
ENST00000625514.2:c.2059C=	ENSP00000486040.1:p.Arg687=
ENST00000626839.2:c.2017C=	ENSP00000486706.1:p.Arg673=
ENST00000629241.2:c.1987C=	ENSP00000487142.1:p.Arg663=
ENST00000629676.2:c.1679+6258C=	ENSP00000486194.1:n.1679+6258C=
NM_004518.4:c.1987C=	NP_004509.2:p.Arg663=
NM_172106.1:c.2017C=	NP_742104.1:p.Arg673=
NM_172107.2:c.2071C=	NP_742105.1:p.Arg691=
NM_172108.3:c.1978C=	NP_742106.1:p.Arg660=
XM_006723787.1:c.2113C=	XP_006723850.1:p.Arg705=
XM_011528807.1:c.2179C=	XP_011527109.1:p.Arg727=
XM_011528808.1:c.2176C=	XP_011527110.1:p.Arg726=
XM_011528809.1:c.2149C=	XP_011527111.1:p.Arg717=
XM_011528810.1:c.2125C=	XP_011527112.1:p.Arg709=
XM_011528811.1:c.2095C=	XP_011527113.1:p.Arg699=
XM_011528812.1:c.2068C=	XP_011527114.1:p.Arg690=
XM_011528813.1:c.2053C=	XP_011527115.1:p.Arg685=
XM_011528814.1:c.1660C=	XP_011527116.1:p.Arg554=
NM_004518.5:c.1987C=	NP_004509.2:p.Arg663=
NM_172106.2:c.2017C=	NP_742104.1:p.Arg673=
NM_172107.3:c.2071C=	NP_742105.1:p.Arg691=
NM_172108.4:c.1978C=	NP_742106.1:p.Arg660=
XM_011528810.2:c.2125C=	XP_011527112.1:p.Arg709=
XM_011528811.2:c.2095C=	XP_011527113.1:p.Arg699=
XM_017027841.2:c.2122C=	XP_016883330.1:p.Arg708=
XM_017027842.2:c.2059C=	XP_016883331.1:p.Arg687=
XM_017027843.1:c.2056C=	XP_016883332.1:p.Arg686=
XM_017027844.2:c.2014C=	XP_016883333.1:p.Arg672=
XM_017027845.1:c.1087C=	XP_016883334.1:p.Arg363=
NM_004518.6:c.1987C=	NP_004509.2:p.Arg663=
NM_172106.3:c.2017C=	NP_742104.1:p.Arg673=
NM_172107.4:c.2071C= MANE Select	NP_742105.1:p.Arg691=
NM_172108.5:c.1978C=	NP_742106.1:p.Arg660=
NM_001382235.1:c.2125C=	NP_001369164.1:p.Arg709=