Canonical Allele Identifier: CA2374774268

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406842G= , CM000682.2:g.63406842G=	GRCh38
NC_000020.10:g.62038195G= , CM000682.1:g.62038195G=	GRCh37
NC_000020.9:g.61508639G=	NCBI36
NG_009004.1:g.70799C=
NG_009004.2:g.70799C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2475C=	ENSP00000516702.1:p.Ile825=
ENST00000359125.7:c.2421C= MANE Select	ENSP00000352035.2:p.Ile807=
ENST00000637193.1:c.1818C=	ENSP00000490734.1:p.Ile606=
ENST00000344462.8:c.2328C=	ENSP00000339611.4:p.Ile776=
ENST00000357249.6:c.1989C=	ENSP00000349789.3:p.Ile663=
ENST00000359125.6:c.2421C=	ENSP00000352035.2:p.Ile807=
ENST00000360480.7:c.2337C=	ENSP00000353668.3:p.Ile779=
ENST00000370224.5:c.2241+204C=	ENSP00000359244.2:n.2241+204C=
ENST00000625514.2:c.2205+204C=	ENSP00000486040.1:n.2205+204C=
ENST00000626839.2:c.2367C=	ENSP00000486706.1:p.Ile789=
ENST00000629241.2:c.2133+204C=	ENSP00000487142.1:n.2133+204C=
ENST00000629676.2:c.1680-5999C=	ENSP00000486194.1:n.1680-5999C=
NM_004518.4:c.2337C=	NP_004509.2:p.Ile779=
NM_172106.1:c.2367C=	NP_742104.1:p.Ile789=
NM_172107.2:c.2421C=	NP_742105.1:p.Ile807=
NM_172108.3:c.2328C=	NP_742106.1:p.Ile776=
XM_006723787.1:c.2463C=	XP_006723850.1:p.Ile821=
XM_011528807.1:c.2529C=	XP_011527109.1:p.Ile843=
XM_011528808.1:c.2526C=	XP_011527110.1:p.Ile842=
XM_011528809.1:c.2499C=	XP_011527111.1:p.Ile833=
XM_011528810.1:c.2475C=	XP_011527112.1:p.Ile825=
XM_011528811.1:c.2445C=	XP_011527113.1:p.Ile815=
XM_011528812.1:c.2418C=	XP_011527114.1:p.Ile806=
XM_011528813.1:c.2403C=	XP_011527115.1:p.Ile801=
XM_011528814.1:c.2010C=	XP_011527116.1:p.Ile670=
NM_004518.5:c.2337C=	NP_004509.2:p.Ile779=
NM_172106.2:c.2367C=	NP_742104.1:p.Ile789=
NM_172107.3:c.2421C=	NP_742105.1:p.Ile807=
NM_172108.4:c.2328C=	NP_742106.1:p.Ile776=
XM_011528810.2:c.2475C=	XP_011527112.1:p.Ile825=
XM_011528811.2:c.2445C=	XP_011527113.1:p.Ile815=
XM_017027841.2:c.2472C=	XP_016883330.1:p.Ile824=
XM_017027842.2:c.2409C=	XP_016883331.1:p.Ile803=
XM_017027843.1:c.2406C=	XP_016883332.1:p.Ile802=
XM_017027844.2:c.2364C=	XP_016883333.1:p.Ile788=
XM_017027845.1:c.1437C=	XP_016883334.1:p.Ile479=
NM_004518.6:c.2337C=	NP_004509.2:p.Ile779=
NM_172106.3:c.2367C=	NP_742104.1:p.Ile789=
NM_172107.4:c.2421C= MANE Select	NP_742105.1:p.Ile807=
NM_172108.5:c.2328C=	NP_742106.1:p.Ile776=
NM_001382235.1:c.2475C=	NP_001369164.1:p.Ile825=