Canonical Allele Identifier: CA2374774295

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406902G= , CM000682.2:g.63406902G=	GRCh38
NC_000020.10:g.62038255G= , CM000682.1:g.62038255G=	GRCh37
NC_000020.9:g.61508699G=	NCBI36
NG_009004.1:g.70739C=
NG_009004.2:g.70739C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2415C=	ENSP00000516702.1:p.Ser805=
ENST00000359125.7:c.2361C= MANE Select	ENSP00000352035.2:p.Ser787=
ENST00000637193.1:c.1758C=	ENSP00000490734.1:p.Ser586=
ENST00000344462.8:c.2268C=	ENSP00000339611.4:p.Ser756=
ENST00000357249.6:c.1929C=	ENSP00000349789.3:p.Ser643=
ENST00000359125.6:c.2361C=	ENSP00000352035.2:p.Ser787=
ENST00000360480.7:c.2277C=	ENSP00000353668.3:p.Ser759=
ENST00000370224.5:c.2241+144C=	ENSP00000359244.2:n.2241+144C=
ENST00000625514.2:c.2205+144C=	ENSP00000486040.1:n.2205+144C=
ENST00000626839.2:c.2307C=	ENSP00000486706.1:p.Ser769=
ENST00000629241.2:c.2133+144C=	ENSP00000487142.1:n.2133+144C=
ENST00000629676.2:c.1680-6059C=	ENSP00000486194.1:n.1680-6059C=
NM_004518.4:c.2277C=	NP_004509.2:p.Ser759=
NM_172106.1:c.2307C=	NP_742104.1:p.Ser769=
NM_172107.2:c.2361C=	NP_742105.1:p.Ser787=
NM_172108.3:c.2268C=	NP_742106.1:p.Ser756=
XM_006723787.1:c.2403C=	XP_006723850.1:p.Ser801=
XM_011528807.1:c.2469C=	XP_011527109.1:p.Ser823=
XM_011528808.1:c.2466C=	XP_011527110.1:p.Ser822=
XM_011528809.1:c.2439C=	XP_011527111.1:p.Ser813=
XM_011528810.1:c.2415C=	XP_011527112.1:p.Ser805=
XM_011528811.1:c.2385C=	XP_011527113.1:p.Ser795=
XM_011528812.1:c.2358C=	XP_011527114.1:p.Ser786=
XM_011528813.1:c.2343C=	XP_011527115.1:p.Ser781=
XM_011528814.1:c.1950C=	XP_011527116.1:p.Ser650=
NM_004518.5:c.2277C=	NP_004509.2:p.Ser759=
NM_172106.2:c.2307C=	NP_742104.1:p.Ser769=
NM_172107.3:c.2361C=	NP_742105.1:p.Ser787=
NM_172108.4:c.2268C=	NP_742106.1:p.Ser756=
XM_011528810.2:c.2415C=	XP_011527112.1:p.Ser805=
XM_011528811.2:c.2385C=	XP_011527113.1:p.Ser795=
XM_017027841.2:c.2412C=	XP_016883330.1:p.Ser804=
XM_017027842.2:c.2349C=	XP_016883331.1:p.Ser783=
XM_017027843.1:c.2346C=	XP_016883332.1:p.Ser782=
XM_017027844.2:c.2304C=	XP_016883333.1:p.Ser768=
XM_017027845.1:c.1377C=	XP_016883334.1:p.Ser459=
NM_004518.6:c.2277C=	NP_004509.2:p.Ser759=
NM_172106.3:c.2307C=	NP_742104.1:p.Ser769=
NM_172107.4:c.2361C= MANE Select	NP_742105.1:p.Ser787=
NM_172108.5:c.2268C=	NP_742106.1:p.Ser756=
NM_001382235.1:c.2415C=	NP_001369164.1:p.Ser805=