Canonical Allele Identifier: CA342495
Gene: KCNQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21781
ClinVar RCV Id: RCV000678072
dbSNP Id: rs118192245

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63406668del , CM000682.2:g.63406668del GRCh38
NC_000020.10:g.62038021del , CM000682.1:g.62038021del GRCh37
NC_000020.9:g.61508465del NCBI36
NG_009004.1:g.70975del
NG_009004.2:g.70975del

Transcript Alleles

HGVS Amino-acid change
NM_004518.4:c.2513del VV NP_004509.2:p.Gly838AlafsTer?
NM_172106.1:c.2543del VV NP_742104.1:p.Gly848AlafsTer?
NM_172107.2:c.2597del VV NP_742105.1:p.Gly866AlafsTer?
NM_172108.3:c.2504del VV NP_742106.1:p.Gly835AlafsTer?
XM_006723787.1:c.2639del XP_006723850.1:p.Gly880AlafsTer?
XM_011528807.1:c.2705del XP_011527109.1:p.Gly902AlafsTer?
XM_011528808.1:c.2702del XP_011527110.1:p.Gly901AlafsTer?
XM_011528809.1:c.2675del XP_011527111.1:p.Gly892AlafsTer?
XM_011528810.1:c.2651del XP_011527112.1:p.Gly884AlafsTer?
XM_011528811.1:c.2621del XP_011527113.1:p.Gly874AlafsTer?
XM_011528812.1:c.2594del XP_011527114.1:p.Gly865AlafsTer?
XM_011528813.1:c.2579del XP_011527115.1:p.Gly860AlafsTer?
XM_011528814.1:c.2186del XP_011527116.1:p.Gly729AlafsTer?
NM_004518.5:c.2513del VV NP_004509.2:p.Gly838AlafsTer?
NM_172106.2:c.2543del VV NP_742104.1:p.Gly848AlafsTer?
NM_172107.3:c.2597del VV NP_742105.1:p.Gly866AlafsTer?
NM_172108.4:c.2504del VV NP_742106.1:p.Gly835AlafsTer?
XM_011528810.2:c.2651del XP_011527112.1:p.Gly884AlafsTer?
XM_011528811.2:c.2621del XP_011527113.1:p.Gly874AlafsTer?
XM_017027841.2:c.2648del XP_016883330.1:p.Gly883AlafsTer?
XM_017027842.2:c.2585del XP_016883331.1:p.Gly862AlafsTer?
XM_017027843.1:c.2582del XP_016883332.1:p.Gly861AlafsTer?
XM_017027844.2:c.2540del XP_016883333.1:p.Gly847AlafsTer?
XM_017027845.1:c.1613del XP_016883334.1:p.Gly538AlafsTer?
ENST00000344462.8:c.2504del ENSP00000339611.4:p.Gly835AlafsTer?
ENST00000357249.6:n.2165del ENSP00000349789.3:p.Gly722AlafsTer?
ENST00000359125.6:c.2597del ENSP00000352035.2:p.Gly866AlafsTer?
ENST00000360480.7:c.2513del ENSP00000353668.3:p.Gly838AlafsTer?
ENST00000370224.5:c.2241+380del ENSP00000359244.2:p.=
ENST00000625514.2:c.2205+380del ENSP00000486040.1:p.=
ENST00000626839.2:c.2543del ENSP00000486706.1:p.Gly848AlafsTer?
ENST00000629241.2:c.2133+380del ENSP00000487142.1:p.=
ENST00000629676.2:c.1680-5823del ENSP00000486194.1:p.=