Canonical Allele Identifier: CA2374774446

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407146G= , CM000682.2:g.63407146G=	GRCh38
NC_000020.10:g.62038499G= , CM000682.1:g.62038499G=	GRCh37
NC_000020.9:g.61508943G=	NCBI36
NG_009004.1:g.70495C=
NG_009004.2:g.70495C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2171C=	ENSP00000516702.1:p.Ala724=
ENST00000359125.7:c.2117C= MANE Select	ENSP00000352035.2:p.Ala706=
ENST00000637193.1:c.1514C=	ENSP00000490734.1:p.Ala505=
ENST00000344462.8:c.2024C=	ENSP00000339611.4:p.Ala675=
ENST00000357249.6:c.1685C=	ENSP00000349789.3:p.Ala562=
ENST00000359125.6:c.2117C=	ENSP00000352035.2:p.Ala706=
ENST00000360480.7:c.2033C=	ENSP00000353668.3:p.Ala678=
ENST00000370224.5:c.2141C=	ENSP00000359244.2:p.Ala714=
ENST00000625514.2:c.2105C=	ENSP00000486040.1:p.Ala702=
ENST00000626839.2:c.2063C=	ENSP00000486706.1:p.Ala688=
ENST00000629241.2:c.2033C=	ENSP00000487142.1:p.Ala678=
ENST00000629676.2:c.1680-6303C=	ENSP00000486194.1:n.1680-6303C=
NM_004518.4:c.2033C=	NP_004509.2:p.Ala678=
NM_172106.1:c.2063C=	NP_742104.1:p.Ala688=
NM_172107.2:c.2117C=	NP_742105.1:p.Ala706=
NM_172108.3:c.2024C=	NP_742106.1:p.Ala675=
XM_006723787.1:c.2159C=	XP_006723850.1:p.Ala720=
XM_011528807.1:c.2225C=	XP_011527109.1:p.Ala742=
XM_011528808.1:c.2222C=	XP_011527110.1:p.Ala741=
XM_011528809.1:c.2195C=	XP_011527111.1:p.Ala732=
XM_011528810.1:c.2171C=	XP_011527112.1:p.Ala724=
XM_011528811.1:c.2141C=	XP_011527113.1:p.Ala714=
XM_011528812.1:c.2114C=	XP_011527114.1:p.Ala705=
XM_011528813.1:c.2099C=	XP_011527115.1:p.Ala700=
XM_011528814.1:c.1706C=	XP_011527116.1:p.Ala569=
NM_004518.5:c.2033C=	NP_004509.2:p.Ala678=
NM_172106.2:c.2063C=	NP_742104.1:p.Ala688=
NM_172107.3:c.2117C=	NP_742105.1:p.Ala706=
NM_172108.4:c.2024C=	NP_742106.1:p.Ala675=
XM_011528810.2:c.2171C=	XP_011527112.1:p.Ala724=
XM_011528811.2:c.2141C=	XP_011527113.1:p.Ala714=
XM_017027841.2:c.2168C=	XP_016883330.1:p.Ala723=
XM_017027842.2:c.2105C=	XP_016883331.1:p.Ala702=
XM_017027843.1:c.2102C=	XP_016883332.1:p.Ala701=
XM_017027844.2:c.2060C=	XP_016883333.1:p.Ala687=
XM_017027845.1:c.1133C=	XP_016883334.1:p.Ala378=
NM_004518.6:c.2033C=	NP_004509.2:p.Ala678=
NM_172106.3:c.2063C=	NP_742104.1:p.Ala688=
NM_172107.4:c.2117C= MANE Select	NP_742105.1:p.Ala706=
NM_172108.5:c.2024C=	NP_742106.1:p.Ala675=
NM_001382235.1:c.2171C=	NP_001369164.1:p.Ala724=