Canonical Allele Identifier: CA1139666780

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 949396
• ClinVar RCV Id: RCV001220847
• dbSNP Id: rs2080245264

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415073dup , CM000682.2:g.63415073dup	GRCh38
NC_000020.10:g.62046426dup , CM000682.1:g.62046426dup	GRCh37
NC_000020.9:g.61516870dup	NCBI36
NG_009004.1:g.62569dup
NG_009004.2:g.62569dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1302dup	ENSP00000516702.1:p.Lys435GlnfsTer?
ENST00000359125.7:c.1356dup MANE Select	ENSP00000352035.2:p.Lys453GlnfsTer?
ENST00000637193.1:c.753dup	ENSP00000490734.1:p.Lys252GlnfsTer?
ENST00000637584.1:n.93dup
ENST00000344462.8:c.1266dup	ENSP00000339611.4:p.Lys423GlnfsTer?
ENST00000357249.6:c.924dup	ENSP00000349789.3:p.Lys309GlnfsTer?
ENST00000359125.6:c.1356dup	ENSP00000352035.2:p.Lys453GlnfsTer?
ENST00000360480.7:c.1272dup	ENSP00000353668.3:p.Lys425GlnfsTer?
ENST00000370224.5:c.1272dup	ENSP00000359244.2:p.Lys425GlnfsTer?
ENST00000625514.2:c.1236dup	ENSP00000486040.1:p.Lys413GlnfsTer?
ENST00000626839.2:c.1302dup	ENSP00000486706.1:p.Lys435GlnfsTer?
ENST00000627221.2:c.416dup
ENST00000629241.2:c.1272dup	ENSP00000487142.1:p.Lys425GlnfsTer?
ENST00000629676.2:c.1272dup	ENSP00000486194.1:p.Lys425GlnfsTer?
NM_004518.4:c.1272dup	NP_004509.2:p.Lys425GlnfsTer?
NM_172106.1:c.1302dup	NP_742104.1:p.Lys435GlnfsTer?
NM_172107.2:c.1356dup	NP_742105.1:p.Lys453GlnfsTer?
NM_172108.3:c.1266dup	NP_742106.1:p.Lys423GlnfsTer?
XM_006723787.1:c.1356dup	XP_006723850.1:p.Lys453GlnfsTer?
XM_011528807.1:c.1356dup	XP_011527109.1:p.Lys453GlnfsTer?
XM_011528808.1:c.1356dup	XP_011527110.1:p.Lys453GlnfsTer?
XM_011528809.1:c.1326dup	XP_011527111.1:p.Lys443GlnfsTer?
XM_011528810.1:c.1302dup	XP_011527112.1:p.Lys435GlnfsTer?
XM_011528811.1:c.1272dup	XP_011527113.1:p.Lys425GlnfsTer?
XM_011528812.1:c.1356dup	XP_011527114.1:p.Lys453GlnfsTer?
XM_011528813.1:c.1230dup	XP_011527115.1:p.Lys411GlnfsTer?
XM_011528814.1:c.837dup	XP_011527116.1:p.Lys280GlnfsTer?
XM_011528815.1:c.1356dup	XP_011527117.1:p.Lys453GlnfsTer?
NM_004518.5:c.1272dup	NP_004509.2:p.Lys425GlnfsTer?
NM_172106.2:c.1302dup	NP_742104.1:p.Lys435GlnfsTer?
NM_172107.3:c.1356dup	NP_742105.1:p.Lys453GlnfsTer?
NM_172108.4:c.1266dup	NP_742106.1:p.Lys423GlnfsTer?
XM_011528810.2:c.1302dup	XP_011527112.1:p.Lys435GlnfsTer?
XM_011528811.2:c.1272dup	XP_011527113.1:p.Lys425GlnfsTer?
XM_017027841.2:c.1302dup	XP_016883330.1:p.Lys435GlnfsTer?
XM_017027842.2:c.1302dup	XP_016883331.1:p.Lys435GlnfsTer?
XM_017027843.1:c.1233dup	XP_016883332.1:p.Lys412GlnfsTer?
XM_017027844.2:c.1302dup	XP_016883333.1:p.Lys435GlnfsTer?
XM_017027845.1:c.264dup	XP_016883334.1:p.Lys89GlnfsTer?
NM_004518.6:c.1272dup	NP_004509.2:p.Lys425GlnfsTer?
NM_172106.3:c.1302dup	NP_742104.1:p.Lys435GlnfsTer?
NM_172107.4:c.1356dup MANE Select	NP_742105.1:p.Lys453GlnfsTer?
NM_172108.5:c.1266dup	NP_742106.1:p.Lys423GlnfsTer?
NM_001382235.1:c.1302dup	NP_001369164.1:p.Lys435GlnfsTer?