Canonical Allele Identifier: CA2374774291

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406895T= , CM000682.2:g.63406895T=	GRCh38
NC_000020.10:g.62038248T= , CM000682.1:g.62038248T=	GRCh37
NC_000020.9:g.61508692T=	NCBI36
NG_009004.1:g.70746A=
NG_009004.2:g.70746A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2422A=	ENSP00000516702.1:p.Ile808=
ENST00000359125.7:c.2368A= MANE Select	ENSP00000352035.2:p.Ile790=
ENST00000637193.1:c.1765A=	ENSP00000490734.1:p.Ile589=
ENST00000344462.8:c.2275A=	ENSP00000339611.4:p.Ile759=
ENST00000357249.6:c.1936A=	ENSP00000349789.3:p.Ile646=
ENST00000359125.6:c.2368A=	ENSP00000352035.2:p.Ile790=
ENST00000360480.7:c.2284A=	ENSP00000353668.3:p.Ile762=
ENST00000370224.5:c.2241+151A=	ENSP00000359244.2:n.2241+151A=
ENST00000625514.2:c.2205+151A=	ENSP00000486040.1:n.2205+151A=
ENST00000626839.2:c.2314A=	ENSP00000486706.1:p.Ile772=
ENST00000629241.2:c.2133+151A=	ENSP00000487142.1:n.2133+151A=
ENST00000629676.2:c.1680-6052A=	ENSP00000486194.1:n.1680-6052A=
NM_004518.4:c.2284A=	NP_004509.2:p.Ile762=
NM_172106.1:c.2314A=	NP_742104.1:p.Ile772=
NM_172107.2:c.2368A=	NP_742105.1:p.Ile790=
NM_172108.3:c.2275A=	NP_742106.1:p.Ile759=
XM_006723787.1:c.2410A=	XP_006723850.1:p.Ile804=
XM_011528807.1:c.2476A=	XP_011527109.1:p.Ile826=
XM_011528808.1:c.2473A=	XP_011527110.1:p.Ile825=
XM_011528809.1:c.2446A=	XP_011527111.1:p.Ile816=
XM_011528810.1:c.2422A=	XP_011527112.1:p.Ile808=
XM_011528811.1:c.2392A=	XP_011527113.1:p.Ile798=
XM_011528812.1:c.2365A=	XP_011527114.1:p.Ile789=
XM_011528813.1:c.2350A=	XP_011527115.1:p.Ile784=
XM_011528814.1:c.1957A=	XP_011527116.1:p.Ile653=
NM_004518.5:c.2284A=	NP_004509.2:p.Ile762=
NM_172106.2:c.2314A=	NP_742104.1:p.Ile772=
NM_172107.3:c.2368A=	NP_742105.1:p.Ile790=
NM_172108.4:c.2275A=	NP_742106.1:p.Ile759=
XM_011528810.2:c.2422A=	XP_011527112.1:p.Ile808=
XM_011528811.2:c.2392A=	XP_011527113.1:p.Ile798=
XM_017027841.2:c.2419A=	XP_016883330.1:p.Ile807=
XM_017027842.2:c.2356A=	XP_016883331.1:p.Ile786=
XM_017027843.1:c.2353A=	XP_016883332.1:p.Ile785=
XM_017027844.2:c.2311A=	XP_016883333.1:p.Ile771=
XM_017027845.1:c.1384A=	XP_016883334.1:p.Ile462=
NM_004518.6:c.2284A=	NP_004509.2:p.Ile762=
NM_172106.3:c.2314A=	NP_742104.1:p.Ile772=
NM_172107.4:c.2368A= MANE Select	NP_742105.1:p.Ile790=
NM_172108.5:c.2275A=	NP_742106.1:p.Ile759=
NM_001382235.1:c.2422A=	NP_001369164.1:p.Ile808=