Canonical Allele Identifier: CA2374774441

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407141G= , CM000682.2:g.63407141G=	GRCh38
NC_000020.10:g.62038494G= , CM000682.1:g.62038494G=	GRCh37
NC_000020.9:g.61508938G=	NCBI36
NG_009004.1:g.70500C=
NG_009004.2:g.70500C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2176C=	ENSP00000516702.1:p.Pro726=
ENST00000359125.7:c.2122C= MANE Select	ENSP00000352035.2:p.Pro708=
ENST00000637193.1:c.1519C=	ENSP00000490734.1:p.Pro507=
ENST00000344462.8:c.2029C=	ENSP00000339611.4:p.Pro677=
ENST00000357249.6:c.1690C=	ENSP00000349789.3:p.Pro564=
ENST00000359125.6:c.2122C=	ENSP00000352035.2:p.Pro708=
ENST00000360480.7:c.2038C=	ENSP00000353668.3:p.Pro680=
ENST00000370224.5:c.2146C=	ENSP00000359244.2:p.Pro716=
ENST00000625514.2:c.2110C=	ENSP00000486040.1:p.Pro704=
ENST00000626839.2:c.2068C=	ENSP00000486706.1:p.Pro690=
ENST00000629241.2:c.2038C=	ENSP00000487142.1:p.Pro680=
ENST00000629676.2:c.1680-6298C=	ENSP00000486194.1:n.1680-6298C=
NM_004518.4:c.2038C=	NP_004509.2:p.Pro680=
NM_172106.1:c.2068C=	NP_742104.1:p.Pro690=
NM_172107.2:c.2122C=	NP_742105.1:p.Pro708=
NM_172108.3:c.2029C=	NP_742106.1:p.Pro677=
XM_006723787.1:c.2164C=	XP_006723850.1:p.Pro722=
XM_011528807.1:c.2230C=	XP_011527109.1:p.Pro744=
XM_011528808.1:c.2227C=	XP_011527110.1:p.Pro743=
XM_011528809.1:c.2200C=	XP_011527111.1:p.Pro734=
XM_011528810.1:c.2176C=	XP_011527112.1:p.Pro726=
XM_011528811.1:c.2146C=	XP_011527113.1:p.Pro716=
XM_011528812.1:c.2119C=	XP_011527114.1:p.Pro707=
XM_011528813.1:c.2104C=	XP_011527115.1:p.Pro702=
XM_011528814.1:c.1711C=	XP_011527116.1:p.Pro571=
NM_004518.5:c.2038C=	NP_004509.2:p.Pro680=
NM_172106.2:c.2068C=	NP_742104.1:p.Pro690=
NM_172107.3:c.2122C=	NP_742105.1:p.Pro708=
NM_172108.4:c.2029C=	NP_742106.1:p.Pro677=
XM_011528810.2:c.2176C=	XP_011527112.1:p.Pro726=
XM_011528811.2:c.2146C=	XP_011527113.1:p.Pro716=
XM_017027841.2:c.2173C=	XP_016883330.1:p.Pro725=
XM_017027842.2:c.2110C=	XP_016883331.1:p.Pro704=
XM_017027843.1:c.2107C=	XP_016883332.1:p.Pro703=
XM_017027844.2:c.2065C=	XP_016883333.1:p.Pro689=
XM_017027845.1:c.1138C=	XP_016883334.1:p.Pro380=
NM_004518.6:c.2038C=	NP_004509.2:p.Pro680=
NM_172106.3:c.2068C=	NP_742104.1:p.Pro690=
NM_172107.4:c.2122C= MANE Select	NP_742105.1:p.Pro708=
NM_172108.5:c.2029C=	NP_742106.1:p.Pro677=
NM_001382235.1:c.2176C=	NP_001369164.1:p.Pro726=