Canonical Allele Identifier: CA2374778331

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414178C= , CM000682.2:g.63414178C=	GRCh38
NC_000020.10:g.62045531C= , CM000682.1:g.62045531C=	GRCh37
NC_000020.9:g.61515975C=	NCBI36
NG_009004.1:g.63463G=
NG_009004.2:g.63463G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1487G=	ENSP00000516702.1:p.Gly496=
ENST00000359125.7:c.1541G= MANE Select	ENSP00000352035.2:p.Gly514=
ENST00000637193.1:c.938G=	ENSP00000490734.1:p.Gly313=
ENST00000344462.8:c.1448G=	ENSP00000339611.4:p.Gly483=
ENST00000357249.6:c.1109G=	ENSP00000349789.3:p.Gly370=
ENST00000359125.6:c.1541G=	ENSP00000352035.2:p.Gly514=
ENST00000360480.7:c.1457G=	ENSP00000353668.3:p.Gly486=
ENST00000370224.5:c.1457G=	ENSP00000359244.2:p.Gly486=
ENST00000625514.2:c.1421G=	ENSP00000486040.1:p.Gly474=
ENST00000626839.2:c.1487G=	ENSP00000486706.1:p.Gly496=
ENST00000627221.2:c.598G=
ENST00000629241.2:c.1457G=	ENSP00000487142.1:p.Gly486=
ENST00000629318.1:c.149G=	ENSP00000487384.1:p.Gly50=
ENST00000629676.2:c.1457G=	ENSP00000486194.1:p.Gly486=
NM_004518.4:c.1457G=	NP_004509.2:p.Gly486=
NM_172106.1:c.1487G=	NP_742104.1:p.Gly496=
NM_172107.2:c.1541G=	NP_742105.1:p.Gly514=
NM_172108.3:c.1448G=	NP_742106.1:p.Gly483=
XM_006723787.1:c.1541G=	XP_006723850.1:p.Gly514=
XM_011528807.1:c.1541G=	XP_011527109.1:p.Gly514=
XM_011528808.1:c.1538G=	XP_011527110.1:p.Gly513=
XM_011528809.1:c.1511G=	XP_011527111.1:p.Gly504=
XM_011528810.1:c.1487G=	XP_011527112.1:p.Gly496=
XM_011528811.1:c.1457G=	XP_011527113.1:p.Gly486=
XM_011528812.1:c.1538G=	XP_011527114.1:p.Gly513=
XM_011528813.1:c.1415G=	XP_011527115.1:p.Gly472=
XM_011528814.1:c.1022G=	XP_011527116.1:p.Gly341=
XM_011528815.1:c.1541G=	XP_011527117.1:p.Gly514=
NM_004518.5:c.1457G=	NP_004509.2:p.Gly486=
NM_172106.2:c.1487G=	NP_742104.1:p.Gly496=
NM_172107.3:c.1541G=	NP_742105.1:p.Gly514=
NM_172108.4:c.1448G=	NP_742106.1:p.Gly483=
XM_011528810.2:c.1487G=	XP_011527112.1:p.Gly496=
XM_011528811.2:c.1457G=	XP_011527113.1:p.Gly486=
XM_017027841.2:c.1484G=	XP_016883330.1:p.Gly495=
XM_017027842.2:c.1487G=	XP_016883331.1:p.Gly496=
XM_017027843.1:c.1418G=	XP_016883332.1:p.Gly473=
XM_017027844.2:c.1484G=	XP_016883333.1:p.Gly495=
XM_017027845.1:c.449G=	XP_016883334.1:p.Gly150=
NM_004518.6:c.1457G=	NP_004509.2:p.Gly486=
NM_172106.3:c.1487G=	NP_742104.1:p.Gly496=
NM_172107.4:c.1541G= MANE Select	NP_742105.1:p.Gly514=
NM_172108.5:c.1448G=	NP_742106.1:p.Gly483=
NM_001382235.1:c.1487G=	NP_001369164.1:p.Gly496=