Canonical Allele Identifier: CA2739277253

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2833821
• ClinVar RCV Id: RCV003754476

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406889_63407267del , CM000682.2:g.63406889_63407267del	GRCh38
NC_000020.10:g.62038242_62038620del , CM000682.1:g.62038242_62038620del	GRCh37
NC_000020.9:g.61508686_61509064del	NCBI36
NG_009004.1:g.70377_70755del
NG_009004.2:g.70377_70755del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2053_2431del	ENSP00000516702.1:p.Ala685TrpfsTer?
ENST00000359125.7:c.1999_2377del MANE Select	ENSP00000352035.2:p.Ala667TrpfsTer?
ENST00000637193.1:c.1396_1774del	ENSP00000490734.1:p.Ala466TrpfsTer?
ENST00000344462.8:c.1906_2284del	ENSP00000339611.4:p.Ala636TrpfsTer?
ENST00000357249.6:c.1567_1945del	ENSP00000349789.3:p.Ala523TrpfsTer?
ENST00000359125.6:c.1999_2377del	ENSP00000352035.2:p.Ala667TrpfsTer?
ENST00000360480.7:c.1915_2293del	ENSP00000353668.3:p.Ala639TrpfsTer?
ENST00000370224.5:c.2023_2241+160del
ENST00000625514.2:c.1987_2205+160del
ENST00000626839.2:c.1945_2323del	ENSP00000486706.1:p.Ala649TrpfsTer?
ENST00000629241.2:c.1915_2133+160del
ENST00000629676.2:c.1679+6186_1680-6043del	ENSP00000486194.1:n.1679+6186_1680-6043de...
NM_004518.4:c.1915_2293del	NP_004509.2:p.Ala639TrpfsTer?
NM_172106.1:c.1945_2323del	NP_742104.1:p.Ala649TrpfsTer?
NM_172107.2:c.1999_2377del	NP_742105.1:p.Ala667TrpfsTer?
NM_172108.3:c.1906_2284del	NP_742106.1:p.Ala636TrpfsTer?
XM_006723787.1:c.2041_2419del	XP_006723850.1:p.Ala681TrpfsTer?
XM_011528807.1:c.2107_2485del	XP_011527109.1:p.Ala703TrpfsTer?
XM_011528808.1:c.2104_2482del	XP_011527110.1:p.Ala702TrpfsTer?
XM_011528809.1:c.2077_2455del	XP_011527111.1:p.Ala693TrpfsTer?
XM_011528810.1:c.2053_2431del	XP_011527112.1:p.Ala685TrpfsTer?
XM_011528811.1:c.2023_2401del	XP_011527113.1:p.Ala675TrpfsTer?
XM_011528812.1:c.1996_2374del	XP_011527114.1:p.Ala666TrpfsTer?
XM_011528813.1:c.1981_2359del	XP_011527115.1:p.Ala661TrpfsTer?
XM_011528814.1:c.1588_1966del	XP_011527116.1:p.Ala530TrpfsTer?
NM_004518.5:c.1915_2293del	NP_004509.2:p.Ala639TrpfsTer?
NM_172106.2:c.1945_2323del	NP_742104.1:p.Ala649TrpfsTer?
NM_172107.3:c.1999_2377del	NP_742105.1:p.Ala667TrpfsTer?
NM_172108.4:c.1906_2284del	NP_742106.1:p.Ala636TrpfsTer?
XM_011528810.2:c.2053_2431del	XP_011527112.1:p.Ala685TrpfsTer?
XM_011528811.2:c.2023_2401del	XP_011527113.1:p.Ala675TrpfsTer?
XM_017027841.2:c.2050_2428del	XP_016883330.1:p.Ala684TrpfsTer?
XM_017027842.2:c.1987_2365del	XP_016883331.1:p.Ala663TrpfsTer?
XM_017027843.1:c.1984_2362del	XP_016883332.1:p.Ala662TrpfsTer?
XM_017027844.2:c.1942_2320del	XP_016883333.1:p.Ala648TrpfsTer?
XM_017027845.1:c.1015_1393del	XP_016883334.1:p.Ala339TrpfsTer?
NM_004518.6:c.1915_2293del	NP_004509.2:p.Ala639TrpfsTer?
NM_172106.3:c.1945_2323del	NP_742104.1:p.Ala649TrpfsTer?
NM_172107.4:c.1999_2377del MANE Select	NP_742105.1:p.Ala667TrpfsTer?
NM_172108.5:c.1906_2284del	NP_742106.1:p.Ala636TrpfsTer?
NM_001382235.1:c.2053_2431del	NP_001369164.1:p.Ala685TrpfsTer?