Canonical Allele Identifier: CA342481
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21772
ClinVar RCV Id: RCV000678065
dbSNP Id: rs118192241

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407333del , CM000682.2:g.63407333del GRCh38
NC_000020.10:g.62038686del , CM000682.1:g.62038686del GRCh37
NC_000020.9:g.61509130del NCBI36
NG_009004.1:g.70308del
NG_009004.2:g.70308del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1984del ENSP00000516702.1:p.Tyr662ThrfsTer?
ENST00000359125.7:c.1930del MANE Select ENSP00000352035.2:p.Tyr644ThrfsTer?
ENST00000637193.1:c.1327del ENSP00000490734.1:p.Tyr443ThrfsTer?
ENST00000637338.1:n.87del
ENST00000344462.8:c.1837del ENSP00000339611.4:p.Tyr613ThrfsTer?
ENST00000357249.6:c.1498del ENSP00000349789.3:p.Tyr500ThrfsTer?
ENST00000359125.6:c.1930del ENSP00000352035.2:p.Tyr644ThrfsTer?
ENST00000360480.7:c.1846del ENSP00000353668.3:p.Tyr616ThrfsTer?
ENST00000370224.5:c.1954del ENSP00000359244.2:p.Tyr652ThrfsTer?
ENST00000625514.2:c.1918del ENSP00000486040.1:p.Tyr640ThrfsTer?
ENST00000626839.2:c.1876del ENSP00000486706.1:p.Tyr626ThrfsTer?
ENST00000629241.2:c.1846del ENSP00000487142.1:p.Tyr616ThrfsTer?
ENST00000629676.2:c.1679+6117del ENSP00000486194.1:n.1679+6117del
NM_004518.4:c.1846del NP_004509.2:p.Tyr616ThrfsTer?
NM_172106.1:c.1876del NP_742104.1:p.Tyr626ThrfsTer?
NM_172107.2:c.1930del NP_742105.1:p.Tyr644ThrfsTer?
NM_172108.3:c.1837del NP_742106.1:p.Tyr613ThrfsTer?
XM_006723787.1:c.1972del XP_006723850.1:p.Tyr658ThrfsTer?
XM_011528807.1:c.2038del XP_011527109.1:p.Tyr680ThrfsTer?
XM_011528808.1:c.2035del XP_011527110.1:p.Tyr679ThrfsTer?
XM_011528809.1:c.2008del XP_011527111.1:p.Tyr670ThrfsTer?
XM_011528810.1:c.1984del XP_011527112.1:p.Tyr662ThrfsTer?
XM_011528811.1:c.1954del XP_011527113.1:p.Tyr652ThrfsTer?
XM_011528812.1:c.1927del XP_011527114.1:p.Tyr643ThrfsTer?
XM_011528813.1:c.1912del XP_011527115.1:p.Tyr638ThrfsTer?
XM_011528814.1:c.1519del XP_011527116.1:p.Tyr507ThrfsTer?
NM_004518.5:c.1846del NP_004509.2:p.Tyr616ThrfsTer?
NM_172106.2:c.1876del NP_742104.1:p.Tyr626ThrfsTer?
NM_172107.3:c.1930del NP_742105.1:p.Tyr644ThrfsTer?
NM_172108.4:c.1837del NP_742106.1:p.Tyr613ThrfsTer?
XM_011528810.2:c.1984del XP_011527112.1:p.Tyr662ThrfsTer?
XM_011528811.2:c.1954del XP_011527113.1:p.Tyr652ThrfsTer?
XM_017027841.2:c.1981del XP_016883330.1:p.Tyr661ThrfsTer?
XM_017027842.2:c.1918del XP_016883331.1:p.Tyr640ThrfsTer?
XM_017027843.1:c.1915del XP_016883332.1:p.Tyr639ThrfsTer?
XM_017027844.2:c.1873del XP_016883333.1:p.Tyr625ThrfsTer?
XM_017027845.1:c.946del XP_016883334.1:p.Tyr316ThrfsTer?
NM_004518.6:c.1846del NP_004509.2:p.Tyr616ThrfsTer?
NM_172106.3:c.1876del NP_742104.1:p.Tyr626ThrfsTer?
NM_172107.4:c.1930del MANE Select NP_742105.1:p.Tyr644ThrfsTer?
NM_172108.5:c.1837del NP_742106.1:p.Tyr613ThrfsTer?
NM_001382235.1:c.1984del NP_001369164.1:p.Tyr662ThrfsTer?