Canonical Allele Identifier: CA2374774260

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406822A= , CM000682.2:g.63406822A=	GRCh38
NC_000020.10:g.62038175A= , CM000682.1:g.62038175A=	GRCh37
NC_000020.9:g.61508619A=	NCBI36
NG_009004.1:g.70819T=
NG_009004.2:g.70819T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2495T=	ENSP00000516702.1:p.Leu832=
ENST00000359125.7:c.2441T= MANE Select	ENSP00000352035.2:p.Leu814=
ENST00000637193.1:c.1838T=	ENSP00000490734.1:p.Leu613=
ENST00000344462.8:c.2348T=	ENSP00000339611.4:p.Leu783=
ENST00000357249.6:c.2009T=	ENSP00000349789.3:p.Leu670=
ENST00000359125.6:c.2441T=	ENSP00000352035.2:p.Leu814=
ENST00000360480.7:c.2357T=	ENSP00000353668.3:p.Leu786=
ENST00000370224.5:c.2241+224T=	ENSP00000359244.2:n.2241+224T=
ENST00000625514.2:c.2205+224T=	ENSP00000486040.1:n.2205+224T=
ENST00000626839.2:c.2387T=	ENSP00000486706.1:p.Leu796=
ENST00000629241.2:c.2133+224T=	ENSP00000487142.1:n.2133+224T=
ENST00000629676.2:c.1680-5979T=	ENSP00000486194.1:n.1680-5979T=
NM_004518.4:c.2357T=	NP_004509.2:p.Leu786=
NM_172106.1:c.2387T=	NP_742104.1:p.Leu796=
NM_172107.2:c.2441T=	NP_742105.1:p.Leu814=
NM_172108.3:c.2348T=	NP_742106.1:p.Leu783=
XM_006723787.1:c.2483T=	XP_006723850.1:p.Leu828=
XM_011528807.1:c.2549T=	XP_011527109.1:p.Leu850=
XM_011528808.1:c.2546T=	XP_011527110.1:p.Leu849=
XM_011528809.1:c.2519T=	XP_011527111.1:p.Leu840=
XM_011528810.1:c.2495T=	XP_011527112.1:p.Leu832=
XM_011528811.1:c.2465T=	XP_011527113.1:p.Leu822=
XM_011528812.1:c.2438T=	XP_011527114.1:p.Leu813=
XM_011528813.1:c.2423T=	XP_011527115.1:p.Leu808=
XM_011528814.1:c.2030T=	XP_011527116.1:p.Leu677=
NM_004518.5:c.2357T=	NP_004509.2:p.Leu786=
NM_172106.2:c.2387T=	NP_742104.1:p.Leu796=
NM_172107.3:c.2441T=	NP_742105.1:p.Leu814=
NM_172108.4:c.2348T=	NP_742106.1:p.Leu783=
XM_011528810.2:c.2495T=	XP_011527112.1:p.Leu832=
XM_011528811.2:c.2465T=	XP_011527113.1:p.Leu822=
XM_017027841.2:c.2492T=	XP_016883330.1:p.Leu831=
XM_017027842.2:c.2429T=	XP_016883331.1:p.Leu810=
XM_017027843.1:c.2426T=	XP_016883332.1:p.Leu809=
XM_017027844.2:c.2384T=	XP_016883333.1:p.Leu795=
XM_017027845.1:c.1457T=	XP_016883334.1:p.Leu486=
NM_004518.6:c.2357T=	NP_004509.2:p.Leu786=
NM_172106.3:c.2387T=	NP_742104.1:p.Leu796=
NM_172107.4:c.2441T= MANE Select	NP_742105.1:p.Leu814=
NM_172108.5:c.2348T=	NP_742106.1:p.Leu783=
NM_001382235.1:c.2495T=	NP_001369164.1:p.Leu832=