Canonical Allele Identifier: CA2374774323

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406942C= , CM000682.2:g.63406942C=	GRCh38
NC_000020.10:g.62038295C= , CM000682.1:g.62038295C=	GRCh37
NC_000020.9:g.61508739C=	NCBI36
NG_009004.1:g.70699G=
NG_009004.2:g.70699G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2375G=	ENSP00000516702.1:p.Cys792=
ENST00000359125.7:c.2321G= MANE Select	ENSP00000352035.2:p.Cys774=
ENST00000637193.1:c.1718G=	ENSP00000490734.1:p.Cys573=
ENST00000344462.8:c.2228G=	ENSP00000339611.4:p.Cys743=
ENST00000357249.6:c.1889G=	ENSP00000349789.3:p.Cys630=
ENST00000359125.6:c.2321G=	ENSP00000352035.2:p.Cys774=
ENST00000360480.7:c.2237G=	ENSP00000353668.3:p.Cys746=
ENST00000370224.5:c.2241+104G=	ENSP00000359244.2:n.2241+104G=
ENST00000625514.2:c.2205+104G=	ENSP00000486040.1:n.2205+104G=
ENST00000626839.2:c.2267G=	ENSP00000486706.1:p.Cys756=
ENST00000629241.2:c.2133+104G=	ENSP00000487142.1:n.2133+104G=
ENST00000629676.2:c.1680-6099G=	ENSP00000486194.1:n.1680-6099G=
NM_004518.4:c.2237G=	NP_004509.2:p.Cys746=
NM_172106.1:c.2267G=	NP_742104.1:p.Cys756=
NM_172107.2:c.2321G=	NP_742105.1:p.Cys774=
NM_172108.3:c.2228G=	NP_742106.1:p.Cys743=
XM_006723787.1:c.2363G=	XP_006723850.1:p.Cys788=
XM_011528807.1:c.2429G=	XP_011527109.1:p.Cys810=
XM_011528808.1:c.2426G=	XP_011527110.1:p.Cys809=
XM_011528809.1:c.2399G=	XP_011527111.1:p.Cys800=
XM_011528810.1:c.2375G=	XP_011527112.1:p.Cys792=
XM_011528811.1:c.2345G=	XP_011527113.1:p.Cys782=
XM_011528812.1:c.2318G=	XP_011527114.1:p.Cys773=
XM_011528813.1:c.2303G=	XP_011527115.1:p.Cys768=
XM_011528814.1:c.1910G=	XP_011527116.1:p.Cys637=
NM_004518.5:c.2237G=	NP_004509.2:p.Cys746=
NM_172106.2:c.2267G=	NP_742104.1:p.Cys756=
NM_172107.3:c.2321G=	NP_742105.1:p.Cys774=
NM_172108.4:c.2228G=	NP_742106.1:p.Cys743=
XM_011528810.2:c.2375G=	XP_011527112.1:p.Cys792=
XM_011528811.2:c.2345G=	XP_011527113.1:p.Cys782=
XM_017027841.2:c.2372G=	XP_016883330.1:p.Cys791=
XM_017027842.2:c.2309G=	XP_016883331.1:p.Cys770=
XM_017027843.1:c.2306G=	XP_016883332.1:p.Cys769=
XM_017027844.2:c.2264G=	XP_016883333.1:p.Cys755=
XM_017027845.1:c.1337G=	XP_016883334.1:p.Cys446=
NM_004518.6:c.2237G=	NP_004509.2:p.Cys746=
NM_172106.3:c.2267G=	NP_742104.1:p.Cys756=
NM_172107.4:c.2321G= MANE Select	NP_742105.1:p.Cys774=
NM_172108.5:c.2228G=	NP_742106.1:p.Cys743=
NM_001382235.1:c.2375G=	NP_001369164.1:p.Cys792=