Canonical Allele Identifier: CA2374778768

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414925G= , CM000682.2:g.63414925G=	GRCh38
NC_000020.10:g.62046278G= , CM000682.1:g.62046278G=	GRCh37
NC_000020.9:g.61516722G=	NCBI36
NG_009004.1:g.62716C=
NG_009004.2:g.62716C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1449C=	ENSP00000516702.1:p.Ala483=
ENST00000359125.7:c.1503C= MANE Select	ENSP00000352035.2:p.Ala501=
ENST00000637193.1:c.900C=	ENSP00000490734.1:p.Ala300=
ENST00000344462.8:c.1413C=	ENSP00000339611.4:p.Ala471=
ENST00000357249.6:c.1071C=	ENSP00000349789.3:p.Ala357=
ENST00000359125.6:c.1503C=	ENSP00000352035.2:p.Ala501=
ENST00000360480.7:c.1419C=	ENSP00000353668.3:p.Ala473=
ENST00000370224.5:c.1419C=	ENSP00000359244.2:p.Ala473=
ENST00000625514.2:c.1383C=	ENSP00000486040.1:p.Ala461=
ENST00000626839.2:c.1449C=	ENSP00000486706.1:p.Ala483=
ENST00000627221.2:c.563C=
ENST00000629241.2:c.1419C=	ENSP00000487142.1:p.Ala473=
ENST00000629318.1:c.111C=	ENSP00000487384.1:p.Ala37=
ENST00000629676.2:c.1419C=	ENSP00000486194.1:p.Ala473=
NM_004518.4:c.1419C=	NP_004509.2:p.Ala473=
NM_172106.1:c.1449C=	NP_742104.1:p.Ala483=
NM_172107.2:c.1503C=	NP_742105.1:p.Ala501=
NM_172108.3:c.1413C=	NP_742106.1:p.Ala471=
XM_006723787.1:c.1503C=	XP_006723850.1:p.Ala501=
XM_011528807.1:c.1503C=	XP_011527109.1:p.Ala501=
XM_011528808.1:c.1503C=	XP_011527110.1:p.Ala501=
XM_011528809.1:c.1473C=	XP_011527111.1:p.Ala491=
XM_011528810.1:c.1449C=	XP_011527112.1:p.Ala483=
XM_011528811.1:c.1419C=	XP_011527113.1:p.Ala473=
XM_011528812.1:c.1503C=	XP_011527114.1:p.Ala501=
XM_011528813.1:c.1377C=	XP_011527115.1:p.Ala459=
XM_011528814.1:c.984C=	XP_011527116.1:p.Ala328=
XM_011528815.1:c.1503C=	XP_011527117.1:p.Ala501=
NM_004518.5:c.1419C=	NP_004509.2:p.Ala473=
NM_172106.2:c.1449C=	NP_742104.1:p.Ala483=
NM_172107.3:c.1503C=	NP_742105.1:p.Ala501=
NM_172108.4:c.1413C=	NP_742106.1:p.Ala471=
XM_011528810.2:c.1449C=	XP_011527112.1:p.Ala483=
XM_011528811.2:c.1419C=	XP_011527113.1:p.Ala473=
XM_017027841.2:c.1449C=	XP_016883330.1:p.Ala483=
XM_017027842.2:c.1449C=	XP_016883331.1:p.Ala483=
XM_017027843.1:c.1380C=	XP_016883332.1:p.Ala460=
XM_017027844.2:c.1449C=	XP_016883333.1:p.Ala483=
XM_017027845.1:c.411C=	XP_016883334.1:p.Ala137=
NM_004518.6:c.1419C=	NP_004509.2:p.Ala473=
NM_172106.3:c.1449C=	NP_742104.1:p.Ala483=
NM_172107.4:c.1503C= MANE Select	NP_742105.1:p.Ala501=
NM_172108.5:c.1413C=	NP_742106.1:p.Ala471=
NM_001382235.1:c.1449C=	NP_001369164.1:p.Ala483=