Canonical Allele Identifier: CA915952957

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 644234
• ClinVar RCV Id: RCV000798112
• dbSNP Id: rs1601542702

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406936_63406937delinsT , CM000682.2:g.63406936_63406937delinsT	GRCh38
NC_000020.10:g.62038289_62038290delinsT , CM000682.1:g.62038289_62038290delinsT	GRCh37
NC_000020.9:g.61508733_61508734delinsT	NCBI36
NG_009004.1:g.70704_70705delinsA
NG_009004.2:g.70704_70705delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2380_2381delinsA	ENSP00000516702.1:p.Pro794ThrfsTer?
ENST00000359125.7:c.2326_2327delinsA MANE Select	ENSP00000352035.2:p.Pro776ThrfsTer?
ENST00000637193.1:c.1723_1724delinsA	ENSP00000490734.1:p.Pro575ThrfsTer?
ENST00000344462.8:c.2233_2234delinsA	ENSP00000339611.4:p.Pro745ThrfsTer?
ENST00000357249.6:c.1894_1895delinsA	ENSP00000349789.3:p.Pro632ThrfsTer?
ENST00000359125.6:c.2326_2327delinsA	ENSP00000352035.2:p.Pro776ThrfsTer?
ENST00000360480.7:c.2242_2243delinsA	ENSP00000353668.3:p.Pro748ThrfsTer?
ENST00000370224.5:c.2241+109_2241+110delinsA	ENSP00000359244.2:n.2241+109_2241+110delinsA
ENST00000625514.2:c.2205+109_2205+110delinsA	ENSP00000486040.1:n.2205+109_2205+110delinsA
ENST00000626839.2:c.2272_2273delinsA	ENSP00000486706.1:p.Pro758ThrfsTer?
ENST00000629241.2:c.2133+109_2133+110delinsA	ENSP00000487142.1:n.2133+109_2133+110delinsA
ENST00000629676.2:c.1680-6094_1680-6093delinsA	ENSP00000486194.1:n.1680-6094_1680-6093delinsA
NM_004518.4:c.2242_2243delinsA	NP_004509.2:p.Pro748ThrfsTer?
NM_172106.1:c.2272_2273delinsA	NP_742104.1:p.Pro758ThrfsTer?
NM_172107.2:c.2326_2327delinsA	NP_742105.1:p.Pro776ThrfsTer?
NM_172108.3:c.2233_2234delinsA	NP_742106.1:p.Pro745ThrfsTer?
XM_006723787.1:c.2368_2369delinsA	XP_006723850.1:p.Pro790ThrfsTer?
XM_011528807.1:c.2434_2435delinsA	XP_011527109.1:p.Pro812ThrfsTer?
XM_011528808.1:c.2431_2432delinsA	XP_011527110.1:p.Pro811ThrfsTer?
XM_011528809.1:c.2404_2405delinsA	XP_011527111.1:p.Pro802ThrfsTer?
XM_011528810.1:c.2380_2381delinsA	XP_011527112.1:p.Pro794ThrfsTer?
XM_011528811.1:c.2350_2351delinsA	XP_011527113.1:p.Pro784ThrfsTer?
XM_011528812.1:c.2323_2324delinsA	XP_011527114.1:p.Pro775ThrfsTer?
XM_011528813.1:c.2308_2309delinsA	XP_011527115.1:p.Pro770ThrfsTer?
XM_011528814.1:c.1915_1916delinsA	XP_011527116.1:p.Pro639ThrfsTer?
NM_004518.5:c.2242_2243delinsA	NP_004509.2:p.Pro748ThrfsTer?
NM_172106.2:c.2272_2273delinsA	NP_742104.1:p.Pro758ThrfsTer?
NM_172107.3:c.2326_2327delinsA	NP_742105.1:p.Pro776ThrfsTer?
NM_172108.4:c.2233_2234delinsA	NP_742106.1:p.Pro745ThrfsTer?
XM_011528810.2:c.2380_2381delinsA	XP_011527112.1:p.Pro794ThrfsTer?
XM_011528811.2:c.2350_2351delinsA	XP_011527113.1:p.Pro784ThrfsTer?
XM_017027841.2:c.2377_2378delinsA	XP_016883330.1:p.Pro793ThrfsTer?
XM_017027842.2:c.2314_2315delinsA	XP_016883331.1:p.Pro772ThrfsTer?
XM_017027843.1:c.2311_2312delinsA	XP_016883332.1:p.Pro771ThrfsTer?
XM_017027844.2:c.2269_2270delinsA	XP_016883333.1:p.Pro757ThrfsTer?
XM_017027845.1:c.1342_1343delinsA	XP_016883334.1:p.Pro448ThrfsTer?
NM_004518.6:c.2242_2243delinsA	NP_004509.2:p.Pro748ThrfsTer?
NM_172106.3:c.2272_2273delinsA	NP_742104.1:p.Pro758ThrfsTer?
NM_172107.4:c.2326_2327delinsA MANE Select	NP_742105.1:p.Pro776ThrfsTer?
NM_172108.5:c.2233_2234delinsA	NP_742106.1:p.Pro745ThrfsTer?
NM_001382235.1:c.2380_2381delinsA	NP_001369164.1:p.Pro794ThrfsTer?