Canonical Allele Identifier: CA2374774289

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406891G= , CM000682.2:g.63406891G=	GRCh38
NC_000020.10:g.62038244G= , CM000682.1:g.62038244G=	GRCh37
NC_000020.9:g.61508688G=	NCBI36
NG_009004.1:g.70750C=
NG_009004.2:g.70750C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2426C=	ENSP00000516702.1:p.Pro809=
ENST00000359125.7:c.2372C= MANE Select	ENSP00000352035.2:p.Pro791=
ENST00000637193.1:c.1769C=	ENSP00000490734.1:p.Pro590=
ENST00000344462.8:c.2279C=	ENSP00000339611.4:p.Pro760=
ENST00000357249.6:c.1940C=	ENSP00000349789.3:p.Pro647=
ENST00000359125.6:c.2372C=	ENSP00000352035.2:p.Pro791=
ENST00000360480.7:c.2288C=	ENSP00000353668.3:p.Pro763=
ENST00000370224.5:c.2241+155C=	ENSP00000359244.2:n.2241+155C=
ENST00000625514.2:c.2205+155C=	ENSP00000486040.1:n.2205+155C=
ENST00000626839.2:c.2318C=	ENSP00000486706.1:p.Pro773=
ENST00000629241.2:c.2133+155C=	ENSP00000487142.1:n.2133+155C=
ENST00000629676.2:c.1680-6048C=	ENSP00000486194.1:n.1680-6048C=
NM_004518.4:c.2288C=	NP_004509.2:p.Pro763=
NM_172106.1:c.2318C=	NP_742104.1:p.Pro773=
NM_172107.2:c.2372C=	NP_742105.1:p.Pro791=
NM_172108.3:c.2279C=	NP_742106.1:p.Pro760=
XM_006723787.1:c.2414C=	XP_006723850.1:p.Pro805=
XM_011528807.1:c.2480C=	XP_011527109.1:p.Pro827=
XM_011528808.1:c.2477C=	XP_011527110.1:p.Pro826=
XM_011528809.1:c.2450C=	XP_011527111.1:p.Pro817=
XM_011528810.1:c.2426C=	XP_011527112.1:p.Pro809=
XM_011528811.1:c.2396C=	XP_011527113.1:p.Pro799=
XM_011528812.1:c.2369C=	XP_011527114.1:p.Pro790=
XM_011528813.1:c.2354C=	XP_011527115.1:p.Pro785=
XM_011528814.1:c.1961C=	XP_011527116.1:p.Pro654=
NM_004518.5:c.2288C=	NP_004509.2:p.Pro763=
NM_172106.2:c.2318C=	NP_742104.1:p.Pro773=
NM_172107.3:c.2372C=	NP_742105.1:p.Pro791=
NM_172108.4:c.2279C=	NP_742106.1:p.Pro760=
XM_011528810.2:c.2426C=	XP_011527112.1:p.Pro809=
XM_011528811.2:c.2396C=	XP_011527113.1:p.Pro799=
XM_017027841.2:c.2423C=	XP_016883330.1:p.Pro808=
XM_017027842.2:c.2360C=	XP_016883331.1:p.Pro787=
XM_017027843.1:c.2357C=	XP_016883332.1:p.Pro786=
XM_017027844.2:c.2315C=	XP_016883333.1:p.Pro772=
XM_017027845.1:c.1388C=	XP_016883334.1:p.Pro463=
NM_004518.6:c.2288C=	NP_004509.2:p.Pro763=
NM_172106.3:c.2318C=	NP_742104.1:p.Pro773=
NM_172107.4:c.2372C= MANE Select	NP_742105.1:p.Pro791=
NM_172108.5:c.2279C=	NP_742106.1:p.Pro760=
NM_001382235.1:c.2426C=	NP_001369164.1:p.Pro809=