Canonical Allele Identifier: CA2374774325

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406946C= , CM000682.2:g.63406946C=	GRCh38
NC_000020.10:g.62038299C= , CM000682.1:g.62038299C=	GRCh37
NC_000020.9:g.61508743C=	NCBI36
NG_009004.1:g.70695G=
NG_009004.2:g.70695G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2371G=	ENSP00000516702.1:p.Gly791=
ENST00000359125.7:c.2317G= MANE Select	ENSP00000352035.2:p.Gly773=
ENST00000637193.1:c.1714G=	ENSP00000490734.1:p.Gly572=
ENST00000344462.8:c.2224G=	ENSP00000339611.4:p.Gly742=
ENST00000357249.6:c.1885G=	ENSP00000349789.3:p.Gly629=
ENST00000359125.6:c.2317G=	ENSP00000352035.2:p.Gly773=
ENST00000360480.7:c.2233G=	ENSP00000353668.3:p.Gly745=
ENST00000370224.5:c.2241+100G=	ENSP00000359244.2:n.2241+100G=
ENST00000625514.2:c.2205+100G=	ENSP00000486040.1:n.2205+100G=
ENST00000626839.2:c.2263G=	ENSP00000486706.1:p.Gly755=
ENST00000629241.2:c.2133+100G=	ENSP00000487142.1:n.2133+100G=
ENST00000629676.2:c.1680-6103G=	ENSP00000486194.1:n.1680-6103G=
NM_004518.4:c.2233G=	NP_004509.2:p.Gly745=
NM_172106.1:c.2263G=	NP_742104.1:p.Gly755=
NM_172107.2:c.2317G=	NP_742105.1:p.Gly773=
NM_172108.3:c.2224G=	NP_742106.1:p.Gly742=
XM_006723787.1:c.2359G=	XP_006723850.1:p.Gly787=
XM_011528807.1:c.2425G=	XP_011527109.1:p.Gly809=
XM_011528808.1:c.2422G=	XP_011527110.1:p.Gly808=
XM_011528809.1:c.2395G=	XP_011527111.1:p.Gly799=
XM_011528810.1:c.2371G=	XP_011527112.1:p.Gly791=
XM_011528811.1:c.2341G=	XP_011527113.1:p.Gly781=
XM_011528812.1:c.2314G=	XP_011527114.1:p.Gly772=
XM_011528813.1:c.2299G=	XP_011527115.1:p.Gly767=
XM_011528814.1:c.1906G=	XP_011527116.1:p.Gly636=
NM_004518.5:c.2233G=	NP_004509.2:p.Gly745=
NM_172106.2:c.2263G=	NP_742104.1:p.Gly755=
NM_172107.3:c.2317G=	NP_742105.1:p.Gly773=
NM_172108.4:c.2224G=	NP_742106.1:p.Gly742=
XM_011528810.2:c.2371G=	XP_011527112.1:p.Gly791=
XM_011528811.2:c.2341G=	XP_011527113.1:p.Gly781=
XM_017027841.2:c.2368G=	XP_016883330.1:p.Gly790=
XM_017027842.2:c.2305G=	XP_016883331.1:p.Gly769=
XM_017027843.1:c.2302G=	XP_016883332.1:p.Gly768=
XM_017027844.2:c.2260G=	XP_016883333.1:p.Gly754=
XM_017027845.1:c.1333G=	XP_016883334.1:p.Gly445=
NM_004518.6:c.2233G=	NP_004509.2:p.Gly745=
NM_172106.3:c.2263G=	NP_742104.1:p.Gly755=
NM_172107.4:c.2317G= MANE Select	NP_742105.1:p.Gly773=
NM_172108.5:c.2224G=	NP_742106.1:p.Gly742=
NM_001382235.1:c.2371G=	NP_001369164.1:p.Gly791=