Canonical Allele Identifier: CA2374774186

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406671G= , CM000682.2:g.63406671G=	GRCh38
NC_000020.10:g.62038024G= , CM000682.1:g.62038024G=	GRCh37
NC_000020.9:g.61508468G=	NCBI36
NG_009004.1:g.70970C=
NG_009004.2:g.70970C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2646C=	ENSP00000516702.1:p.Asp882=
ENST00000359125.7:c.2592C= MANE Select	ENSP00000352035.2:p.Asp864=
ENST00000637193.1:c.1989C=	ENSP00000490734.1:p.Asp663=
ENST00000344462.8:c.2499C=	ENSP00000339611.4:p.Asp833=
ENST00000357249.6:c.2160C=	ENSP00000349789.3:p.Asp720=
ENST00000359125.6:c.2592C=	ENSP00000352035.2:p.Asp864=
ENST00000360480.7:c.2508C=	ENSP00000353668.3:p.Asp836=
ENST00000370224.5:c.2241+375C=	ENSP00000359244.2:n.2241+375C=
ENST00000625514.2:c.2205+375C=	ENSP00000486040.1:n.2205+375C=
ENST00000626839.2:c.2538C=	ENSP00000486706.1:p.Asp846=
ENST00000629241.2:c.2133+375C=	ENSP00000487142.1:n.2133+375C=
ENST00000629676.2:c.1680-5828C=	ENSP00000486194.1:n.1680-5828C=
NM_004518.4:c.2508C=	NP_004509.2:p.Asp836=
NM_172106.1:c.2538C=	NP_742104.1:p.Asp846=
NM_172107.2:c.2592C=	NP_742105.1:p.Asp864=
NM_172108.3:c.2499C=	NP_742106.1:p.Asp833=
XM_006723787.1:c.2634C=	XP_006723850.1:p.Asp878=
XM_011528807.1:c.2700C=	XP_011527109.1:p.Asp900=
XM_011528808.1:c.2697C=	XP_011527110.1:p.Asp899=
XM_011528809.1:c.2670C=	XP_011527111.1:p.Asp890=
XM_011528810.1:c.2646C=	XP_011527112.1:p.Asp882=
XM_011528811.1:c.2616C=	XP_011527113.1:p.Asp872=
XM_011528812.1:c.2589C=	XP_011527114.1:p.Asp863=
XM_011528813.1:c.2574C=	XP_011527115.1:p.Asp858=
XM_011528814.1:c.2181C=	XP_011527116.1:p.Asp727=
NM_004518.5:c.2508C=	NP_004509.2:p.Asp836=
NM_172106.2:c.2538C=	NP_742104.1:p.Asp846=
NM_172107.3:c.2592C=	NP_742105.1:p.Asp864=
NM_172108.4:c.2499C=	NP_742106.1:p.Asp833=
XM_011528810.2:c.2646C=	XP_011527112.1:p.Asp882=
XM_011528811.2:c.2616C=	XP_011527113.1:p.Asp872=
XM_017027841.2:c.2643C=	XP_016883330.1:p.Asp881=
XM_017027842.2:c.2580C=	XP_016883331.1:p.Asp860=
XM_017027843.1:c.2577C=	XP_016883332.1:p.Asp859=
XM_017027844.2:c.2535C=	XP_016883333.1:p.Asp845=
XM_017027845.1:c.1608C=	XP_016883334.1:p.Asp536=
NM_004518.6:c.2508C=	NP_004509.2:p.Asp836=
NM_172106.3:c.2538C=	NP_742104.1:p.Asp846=
NM_172107.4:c.2592C= MANE Select	NP_742105.1:p.Asp864=
NM_172108.5:c.2499C=	NP_742106.1:p.Asp833=
NM_001382235.1:c.2646C=	NP_001369164.1:p.Asp882=