Canonical Allele Identifier: CA2374774297

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406906G= , CM000682.2:g.63406906G=	GRCh38
NC_000020.10:g.62038259G= , CM000682.1:g.62038259G=	GRCh37
NC_000020.9:g.61508703G=	NCBI36
NG_009004.1:g.70735C=
NG_009004.2:g.70735C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2411C=	ENSP00000516702.1:p.Thr804=
ENST00000359125.7:c.2357C= MANE Select	ENSP00000352035.2:p.Thr786=
ENST00000637193.1:c.1754C=	ENSP00000490734.1:p.Thr585=
ENST00000344462.8:c.2264C=	ENSP00000339611.4:p.Thr755=
ENST00000357249.6:c.1925C=	ENSP00000349789.3:p.Thr642=
ENST00000359125.6:c.2357C=	ENSP00000352035.2:p.Thr786=
ENST00000360480.7:c.2273C=	ENSP00000353668.3:p.Thr758=
ENST00000370224.5:c.2241+140C=	ENSP00000359244.2:n.2241+140C=
ENST00000625514.2:c.2205+140C=	ENSP00000486040.1:n.2205+140C=
ENST00000626839.2:c.2303C=	ENSP00000486706.1:p.Thr768=
ENST00000629241.2:c.2133+140C=	ENSP00000487142.1:n.2133+140C=
ENST00000629676.2:c.1680-6063C=	ENSP00000486194.1:n.1680-6063C=
NM_004518.4:c.2273C=	NP_004509.2:p.Thr758=
NM_172106.1:c.2303C=	NP_742104.1:p.Thr768=
NM_172107.2:c.2357C=	NP_742105.1:p.Thr786=
NM_172108.3:c.2264C=	NP_742106.1:p.Thr755=
XM_006723787.1:c.2399C=	XP_006723850.1:p.Thr800=
XM_011528807.1:c.2465C=	XP_011527109.1:p.Thr822=
XM_011528808.1:c.2462C=	XP_011527110.1:p.Thr821=
XM_011528809.1:c.2435C=	XP_011527111.1:p.Thr812=
XM_011528810.1:c.2411C=	XP_011527112.1:p.Thr804=
XM_011528811.1:c.2381C=	XP_011527113.1:p.Thr794=
XM_011528812.1:c.2354C=	XP_011527114.1:p.Thr785=
XM_011528813.1:c.2339C=	XP_011527115.1:p.Thr780=
XM_011528814.1:c.1946C=	XP_011527116.1:p.Thr649=
NM_004518.5:c.2273C=	NP_004509.2:p.Thr758=
NM_172106.2:c.2303C=	NP_742104.1:p.Thr768=
NM_172107.3:c.2357C=	NP_742105.1:p.Thr786=
NM_172108.4:c.2264C=	NP_742106.1:p.Thr755=
XM_011528810.2:c.2411C=	XP_011527112.1:p.Thr804=
XM_011528811.2:c.2381C=	XP_011527113.1:p.Thr794=
XM_017027841.2:c.2408C=	XP_016883330.1:p.Thr803=
XM_017027842.2:c.2345C=	XP_016883331.1:p.Thr782=
XM_017027843.1:c.2342C=	XP_016883332.1:p.Thr781=
XM_017027844.2:c.2300C=	XP_016883333.1:p.Thr767=
XM_017027845.1:c.1373C=	XP_016883334.1:p.Thr458=
NM_004518.6:c.2273C=	NP_004509.2:p.Thr758=
NM_172106.3:c.2303C=	NP_742104.1:p.Thr768=
NM_172107.4:c.2357C= MANE Select	NP_742105.1:p.Thr786=
NM_172108.5:c.2264C=	NP_742106.1:p.Thr755=
NM_001382235.1:c.2411C=	NP_001369164.1:p.Thr804=