Canonical Allele Identifier: CA16043700
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 374272
ClinVar RCV Id: RCV000414826
dbSNP Id: rs1057518662

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406840del , CM000682.2:g.63406840del GRCh38
NC_000020.10:g.62038193del , CM000682.1:g.62038193del GRCh37
NC_000020.9:g.61508637del NCBI36
NG_009004.1:g.70803del
NG_009004.2:g.70803del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.2479del ENSP00000516702.1:p.Gln827SerfsTer?
ENST00000359125.7:c.2425del MANE Select ENSP00000352035.2:p.Gln809SerfsTer?
ENST00000637193.1:c.1822del ENSP00000490734.1:p.Gln608SerfsTer?
ENST00000344462.8:c.2332del ENSP00000339611.4:p.Gln778SerfsTer?
ENST00000357249.6:c.1993del ENSP00000349789.3:p.Gln665SerfsTer?
ENST00000359125.6:c.2425del ENSP00000352035.2:p.Gln809SerfsTer?
ENST00000360480.7:c.2341del ENSP00000353668.3:p.Gln781SerfsTer?
ENST00000370224.5:c.2241+208del ENSP00000359244.2:n.2241+208del
ENST00000625514.2:c.2205+208del ENSP00000486040.1:n.2205+208del
ENST00000626839.2:c.2371del ENSP00000486706.1:p.Gln791SerfsTer?
ENST00000629241.2:c.2133+208del ENSP00000487142.1:n.2133+208del
ENST00000629676.2:c.1680-5995del ENSP00000486194.1:n.1680-5995del
NM_004518.4:c.2341del NP_004509.2:p.Gln781SerfsTer?
NM_172106.1:c.2371del NP_742104.1:p.Gln791SerfsTer?
NM_172107.2:c.2425del NP_742105.1:p.Gln809SerfsTer?
NM_172108.3:c.2332del NP_742106.1:p.Gln778SerfsTer?
XM_006723787.1:c.2467del XP_006723850.1:p.Gln823SerfsTer?
XM_011528807.1:c.2533del XP_011527109.1:p.Gln845SerfsTer?
XM_011528808.1:c.2530del XP_011527110.1:p.Gln844SerfsTer?
XM_011528809.1:c.2503del XP_011527111.1:p.Gln835SerfsTer?
XM_011528810.1:c.2479del XP_011527112.1:p.Gln827SerfsTer?
XM_011528811.1:c.2449del XP_011527113.1:p.Gln817SerfsTer?
XM_011528812.1:c.2422del XP_011527114.1:p.Gln808SerfsTer?
XM_011528813.1:c.2407del XP_011527115.1:p.Gln803SerfsTer?
XM_011528814.1:c.2014del XP_011527116.1:p.Gln672SerfsTer?
NM_004518.5:c.2341del NP_004509.2:p.Gln781SerfsTer?
NM_172106.2:c.2371del NP_742104.1:p.Gln791SerfsTer?
NM_172107.3:c.2425del NP_742105.1:p.Gln809SerfsTer?
NM_172108.4:c.2332del NP_742106.1:p.Gln778SerfsTer?
XM_011528810.2:c.2479del XP_011527112.1:p.Gln827SerfsTer?
XM_011528811.2:c.2449del XP_011527113.1:p.Gln817SerfsTer?
XM_017027841.2:c.2476del XP_016883330.1:p.Gln826SerfsTer?
XM_017027842.2:c.2413del XP_016883331.1:p.Gln805SerfsTer?
XM_017027843.1:c.2410del XP_016883332.1:p.Gln804SerfsTer?
XM_017027844.2:c.2368del XP_016883333.1:p.Gln790SerfsTer?
XM_017027845.1:c.1441del XP_016883334.1:p.Gln481SerfsTer?
NM_004518.6:c.2341del NP_004509.2:p.Gln781SerfsTer?
NM_172106.3:c.2371del NP_742104.1:p.Gln791SerfsTer?
NM_172107.4:c.2425del MANE Select NP_742105.1:p.Gln809SerfsTer?
NM_172108.5:c.2332del NP_742106.1:p.Gln778SerfsTer?
NM_001382235.1:c.2479del NP_001369164.1:p.Gln827SerfsTer?