Canonical Allele Identifier: CA2374774319

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406936G= , CM000682.2:g.63406936G=	GRCh38
NC_000020.10:g.62038289G= , CM000682.1:g.62038289G=	GRCh37
NC_000020.9:g.61508733G=	NCBI36
NG_009004.1:g.70705C=
NG_009004.2:g.70705C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2381C=	ENSP00000516702.1:p.Pro794=
ENST00000359125.7:c.2327C= MANE Select	ENSP00000352035.2:p.Pro776=
ENST00000637193.1:c.1724C=	ENSP00000490734.1:p.Pro575=
ENST00000344462.8:c.2234C=	ENSP00000339611.4:p.Pro745=
ENST00000357249.6:c.1895C=	ENSP00000349789.3:p.Pro632=
ENST00000359125.6:c.2327C=	ENSP00000352035.2:p.Pro776=
ENST00000360480.7:c.2243C=	ENSP00000353668.3:p.Pro748=
ENST00000370224.5:c.2241+110C=	ENSP00000359244.2:n.2241+110C=
ENST00000625514.2:c.2205+110C=	ENSP00000486040.1:n.2205+110C=
ENST00000626839.2:c.2273C=	ENSP00000486706.1:p.Pro758=
ENST00000629241.2:c.2133+110C=	ENSP00000487142.1:n.2133+110C=
ENST00000629676.2:c.1680-6093C=	ENSP00000486194.1:n.1680-6093C=
NM_004518.4:c.2243C=	NP_004509.2:p.Pro748=
NM_172106.1:c.2273C=	NP_742104.1:p.Pro758=
NM_172107.2:c.2327C=	NP_742105.1:p.Pro776=
NM_172108.3:c.2234C=	NP_742106.1:p.Pro745=
XM_006723787.1:c.2369C=	XP_006723850.1:p.Pro790=
XM_011528807.1:c.2435C=	XP_011527109.1:p.Pro812=
XM_011528808.1:c.2432C=	XP_011527110.1:p.Pro811=
XM_011528809.1:c.2405C=	XP_011527111.1:p.Pro802=
XM_011528810.1:c.2381C=	XP_011527112.1:p.Pro794=
XM_011528811.1:c.2351C=	XP_011527113.1:p.Pro784=
XM_011528812.1:c.2324C=	XP_011527114.1:p.Pro775=
XM_011528813.1:c.2309C=	XP_011527115.1:p.Pro770=
XM_011528814.1:c.1916C=	XP_011527116.1:p.Pro639=
NM_004518.5:c.2243C=	NP_004509.2:p.Pro748=
NM_172106.2:c.2273C=	NP_742104.1:p.Pro758=
NM_172107.3:c.2327C=	NP_742105.1:p.Pro776=
NM_172108.4:c.2234C=	NP_742106.1:p.Pro745=
XM_011528810.2:c.2381C=	XP_011527112.1:p.Pro794=
XM_011528811.2:c.2351C=	XP_011527113.1:p.Pro784=
XM_017027841.2:c.2378C=	XP_016883330.1:p.Pro793=
XM_017027842.2:c.2315C=	XP_016883331.1:p.Pro772=
XM_017027843.1:c.2312C=	XP_016883332.1:p.Pro771=
XM_017027844.2:c.2270C=	XP_016883333.1:p.Pro757=
XM_017027845.1:c.1343C=	XP_016883334.1:p.Pro448=
NM_004518.6:c.2243C=	NP_004509.2:p.Pro748=
NM_172106.3:c.2273C=	NP_742104.1:p.Pro758=
NM_172107.4:c.2327C= MANE Select	NP_742105.1:p.Pro776=
NM_172108.5:c.2234C=	NP_742106.1:p.Pro745=
NM_001382235.1:c.2381C=	NP_001369164.1:p.Pro794=