Canonical Allele Identifier: CA16620960
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419407
ClinVar RCV Id: RCV000487374
dbSNP Id: rs1064793852

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406863del , CM000682.2:g.63406863del GRCh38
NC_000020.10:g.62038216del , CM000682.1:g.62038216del GRCh37
NC_000020.9:g.61508660del NCBI36
NG_009004.1:g.70779del
NG_009004.2:g.70779del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.2455del ENSP00000516702.1:p.Ser819ProfsTer?
ENST00000359125.7:c.2401del MANE Select ENSP00000352035.2:p.Ser801ProfsTer?
ENST00000637193.1:c.1798del ENSP00000490734.1:p.Ser600ProfsTer?
ENST00000344462.8:c.2308del ENSP00000339611.4:p.Ser770ProfsTer?
ENST00000357249.6:c.1969del ENSP00000349789.3:p.Ser657ProfsTer?
ENST00000359125.6:c.2401del ENSP00000352035.2:p.Ser801ProfsTer?
ENST00000360480.7:c.2317del ENSP00000353668.3:p.Ser773ProfsTer?
ENST00000370224.5:c.2241+184del ENSP00000359244.2:n.2241+184del
ENST00000625514.2:c.2205+184del ENSP00000486040.1:n.2205+184del
ENST00000626839.2:c.2347del ENSP00000486706.1:p.Ser783ProfsTer?
ENST00000629241.2:c.2133+184del ENSP00000487142.1:n.2133+184del
ENST00000629676.2:c.1680-6019del ENSP00000486194.1:n.1680-6019del
NM_004518.4:c.2317del NP_004509.2:p.Ser773ProfsTer?
NM_172106.1:c.2347del NP_742104.1:p.Ser783ProfsTer?
NM_172107.2:c.2401del NP_742105.1:p.Ser801ProfsTer?
NM_172108.3:c.2308del NP_742106.1:p.Ser770ProfsTer?
XM_006723787.1:c.2443del XP_006723850.1:p.Ser815ProfsTer?
XM_011528807.1:c.2509del XP_011527109.1:p.Ser837ProfsTer?
XM_011528808.1:c.2506del XP_011527110.1:p.Ser836ProfsTer?
XM_011528809.1:c.2479del XP_011527111.1:p.Ser827ProfsTer?
XM_011528810.1:c.2455del XP_011527112.1:p.Ser819ProfsTer?
XM_011528811.1:c.2425del XP_011527113.1:p.Ser809ProfsTer?
XM_011528812.1:c.2398del XP_011527114.1:p.Ser800ProfsTer?
XM_011528813.1:c.2383del XP_011527115.1:p.Ser795ProfsTer?
XM_011528814.1:c.1990del XP_011527116.1:p.Ser664ProfsTer?
NM_004518.5:c.2317del NP_004509.2:p.Ser773ProfsTer?
NM_172106.2:c.2347del NP_742104.1:p.Ser783ProfsTer?
NM_172107.3:c.2401del NP_742105.1:p.Ser801ProfsTer?
NM_172108.4:c.2308del NP_742106.1:p.Ser770ProfsTer?
XM_011528810.2:c.2455del XP_011527112.1:p.Ser819ProfsTer?
XM_011528811.2:c.2425del XP_011527113.1:p.Ser809ProfsTer?
XM_017027841.2:c.2452del XP_016883330.1:p.Ser818ProfsTer?
XM_017027842.2:c.2389del XP_016883331.1:p.Ser797ProfsTer?
XM_017027843.1:c.2386del XP_016883332.1:p.Ser796ProfsTer?
XM_017027844.2:c.2344del XP_016883333.1:p.Ser782ProfsTer?
XM_017027845.1:c.1417del XP_016883334.1:p.Ser473ProfsTer?
NM_004518.6:c.2317del NP_004509.2:p.Ser773ProfsTer?
NM_172106.3:c.2347del NP_742104.1:p.Ser783ProfsTer?
NM_172107.4:c.2401del MANE Select NP_742105.1:p.Ser801ProfsTer?
NM_172108.5:c.2308del NP_742106.1:p.Ser770ProfsTer?
NM_001382235.1:c.2455del NP_001369164.1:p.Ser819ProfsTer?