Canonical Allele Identifier: CA342488
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21775
ClinVar RCV Id: RCV000678068
dbSNP Id: rs118192243

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407248del , CM000682.2:g.63407248del GRCh38
NC_000020.10:g.62038601del , CM000682.1:g.62038601del GRCh37
NC_000020.9:g.61509045del NCBI36
NG_009004.1:g.70393del
NG_009004.2:g.70393del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.2069del ENSP00000516702.1:p.Ser690ThrfsTer?
ENST00000359125.7:c.2015del MANE Select ENSP00000352035.2:p.Ser672ThrfsTer?
ENST00000637193.1:c.1412del ENSP00000490734.1:p.Ser471ThrfsTer?
ENST00000344462.8:c.1922del ENSP00000339611.4:p.Ser641ThrfsTer?
ENST00000357249.6:c.1583del ENSP00000349789.3:p.Ser528ThrfsTer?
ENST00000359125.6:c.2015del ENSP00000352035.2:p.Ser672ThrfsTer?
ENST00000360480.7:c.1931del ENSP00000353668.3:p.Ser644ThrfsTer?
ENST00000370224.5:c.2039del ENSP00000359244.2:p.Ser680ThrfsTer?
ENST00000625514.2:c.2003del ENSP00000486040.1:p.Ser668ThrfsTer?
ENST00000626839.2:c.1961del ENSP00000486706.1:p.Ser654ThrfsTer?
ENST00000629241.2:c.1931del ENSP00000487142.1:p.Ser644ThrfsTer?
ENST00000629676.2:c.1679+6202del ENSP00000486194.1:n.1679+6202del
NM_004518.4:c.1931del NP_004509.2:p.Ser644ThrfsTer?
NM_172106.1:c.1961del NP_742104.1:p.Ser654ThrfsTer?
NM_172107.2:c.2015del NP_742105.1:p.Ser672ThrfsTer?
NM_172108.3:c.1922del NP_742106.1:p.Ser641ThrfsTer?
XM_006723787.1:c.2057del XP_006723850.1:p.Ser686ThrfsTer?
XM_011528807.1:c.2123del XP_011527109.1:p.Ser708ThrfsTer?
XM_011528808.1:c.2120del XP_011527110.1:p.Ser707ThrfsTer?
XM_011528809.1:c.2093del XP_011527111.1:p.Ser698ThrfsTer?
XM_011528810.1:c.2069del XP_011527112.1:p.Ser690ThrfsTer?
XM_011528811.1:c.2039del XP_011527113.1:p.Ser680ThrfsTer?
XM_011528812.1:c.2012del XP_011527114.1:p.Ser671ThrfsTer?
XM_011528813.1:c.1997del XP_011527115.1:p.Ser666ThrfsTer?
XM_011528814.1:c.1604del XP_011527116.1:p.Ser535ThrfsTer?
NM_004518.5:c.1931del NP_004509.2:p.Ser644ThrfsTer?
NM_172106.2:c.1961del NP_742104.1:p.Ser654ThrfsTer?
NM_172107.3:c.2015del NP_742105.1:p.Ser672ThrfsTer?
NM_172108.4:c.1922del NP_742106.1:p.Ser641ThrfsTer?
XM_011528810.2:c.2069del XP_011527112.1:p.Ser690ThrfsTer?
XM_011528811.2:c.2039del XP_011527113.1:p.Ser680ThrfsTer?
XM_017027841.2:c.2066del XP_016883330.1:p.Ser689ThrfsTer?
XM_017027842.2:c.2003del XP_016883331.1:p.Ser668ThrfsTer?
XM_017027843.1:c.2000del XP_016883332.1:p.Ser667ThrfsTer?
XM_017027844.2:c.1958del XP_016883333.1:p.Ser653ThrfsTer?
XM_017027845.1:c.1031del XP_016883334.1:p.Ser344ThrfsTer?
NM_004518.6:c.1931del NP_004509.2:p.Ser644ThrfsTer?
NM_172106.3:c.1961del NP_742104.1:p.Ser654ThrfsTer?
NM_172107.4:c.2015del MANE Select NP_742105.1:p.Ser672ThrfsTer?
NM_172108.5:c.1922del NP_742106.1:p.Ser641ThrfsTer?
NM_001382235.1:c.2069del NP_001369164.1:p.Ser690ThrfsTer?