Canonical Allele Identifier: CA658799396

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 520409
• ClinVar RCV Id: RCV000624351
• dbSNP Id: rs1555850403
• MyVariant Identifiers: chr20:g.62038225_62038238del (hg19) ; chr20:g.63406872_63406885del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406873_63406886del , CM000682.2:g.63406873_63406886del	GRCh38
NC_000020.10:g.62038226_62038239del , CM000682.1:g.62038226_62038239del	GRCh37
NC_000020.9:g.61508670_61508683del	NCBI36
NG_009004.1:g.70756_70769del
NG_009004.2:g.70756_70769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2432_2445del	ENSP00000516702.1:p.Val811AlafsTer?
ENST00000359125.7:c.2378_2391del MANE Select	ENSP00000352035.2:p.Val793AlafsTer?
ENST00000637193.1:c.1775_1788del	ENSP00000490734.1:p.Val592AlafsTer?
ENST00000344462.8:c.2285_2298del	ENSP00000339611.4:p.Val762AlafsTer?
ENST00000357249.6:c.1946_1959del	ENSP00000349789.3:p.Val649AlafsTer?
ENST00000359125.6:c.2378_2391del	ENSP00000352035.2:p.Val793AlafsTer?
ENST00000360480.7:c.2294_2307del	ENSP00000353668.3:p.Val765AlafsTer?
ENST00000370224.5:c.2241+161_2241+174del	ENSP00000359244.2:n.2241+161_2241+174del
ENST00000625514.2:c.2205+161_2205+174del	ENSP00000486040.1:n.2205+161_2205+174del
ENST00000626839.2:c.2324_2337del	ENSP00000486706.1:p.Val775AlafsTer?
ENST00000629241.2:c.2133+161_2133+174del	ENSP00000487142.1:n.2133+161_2133+174del
ENST00000629676.2:c.1680-6042_1680-6029del	ENSP00000486194.1:n.1680-6042_1680-6029del
NM_004518.4:c.2294_2307del	NP_004509.2:p.Val765AlafsTer?
NM_172106.1:c.2324_2337del	NP_742104.1:p.Val775AlafsTer?
NM_172107.2:c.2378_2391del	NP_742105.1:p.Val793AlafsTer?
NM_172108.3:c.2285_2298del	NP_742106.1:p.Val762AlafsTer?
XM_006723787.1:c.2420_2433del	XP_006723850.1:p.Val807AlafsTer?
XM_011528807.1:c.2486_2499del	XP_011527109.1:p.Val829AlafsTer?
XM_011528808.1:c.2483_2496del	XP_011527110.1:p.Val828AlafsTer?
XM_011528809.1:c.2456_2469del	XP_011527111.1:p.Val819AlafsTer?
XM_011528810.1:c.2432_2445del	XP_011527112.1:p.Val811AlafsTer?
XM_011528811.1:c.2402_2415del	XP_011527113.1:p.Val801AlafsTer?
XM_011528812.1:c.2375_2388del	XP_011527114.1:p.Val792AlafsTer?
XM_011528813.1:c.2360_2373del	XP_011527115.1:p.Val787AlafsTer?
XM_011528814.1:c.1967_1980del	XP_011527116.1:p.Val656AlafsTer?
NM_004518.5:c.2294_2307del	NP_004509.2:p.Val765AlafsTer?
NM_172106.2:c.2324_2337del	NP_742104.1:p.Val775AlafsTer?
NM_172107.3:c.2378_2391del	NP_742105.1:p.Val793AlafsTer?
NM_172108.4:c.2285_2298del	NP_742106.1:p.Val762AlafsTer?
XM_011528810.2:c.2432_2445del	XP_011527112.1:p.Val811AlafsTer?
XM_011528811.2:c.2402_2415del	XP_011527113.1:p.Val801AlafsTer?
XM_017027841.2:c.2429_2442del	XP_016883330.1:p.Val810AlafsTer?
XM_017027842.2:c.2366_2379del	XP_016883331.1:p.Val789AlafsTer?
XM_017027843.1:c.2363_2376del	XP_016883332.1:p.Val788AlafsTer?
XM_017027844.2:c.2321_2334del	XP_016883333.1:p.Val774AlafsTer?
XM_017027845.1:c.1394_1407del	XP_016883334.1:p.Val465AlafsTer?
NM_004518.6:c.2294_2307del	NP_004509.2:p.Val765AlafsTer?
NM_172106.3:c.2324_2337del	NP_742104.1:p.Val775AlafsTer?
NM_172107.4:c.2378_2391del MANE Select	NP_742105.1:p.Val793AlafsTer?
NM_172108.5:c.2285_2298del	NP_742106.1:p.Val762AlafsTer?
NM_001382235.1:c.2432_2445del	NP_001369164.1:p.Val811AlafsTer?