Canonical Allele Identifier: CA10654792
Gene: KCNQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369788
ClinVar RCV Id: RCV000678169
dbSNP Id: rs1057516114

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63428390_63428391del , CM000682.2:g.63428390_63428391del GRCh38
NC_000020.10:g.62059743_62059744del , CM000682.1:g.62059743_62059744del GRCh37
NC_000020.9:g.61530187_61530188del NCBI36
NG_009004.1:g.49252_49253del
NG_009004.2:g.49252_49253del

Transcript Alleles

HGVS Amino-acid change
NM_004518.4:c.1165_1166del VV NP_004509.2:p.Ser389Ter
NM_172106.1:c.1195_1196del VV NP_742104.1:p.Ser399Ter
NM_172107.2:c.1195_1196del VV NP_742105.1:p.Ser399Ter
NM_172108.3:c.1195_1196del VV NP_742106.1:p.Ser399Ter
XM_006723787.1:c.1195_1196del XP_006723850.1:p.Ser399Ter
XM_011528807.1:c.1195_1196del XP_011527109.1:p.Ser399Ter
XM_011528808.1:c.1195_1196del XP_011527110.1:p.Ser399Ter
XM_011528809.1:c.1165_1166del XP_011527111.1:p.Ser389Ter
XM_011528810.1:c.1195_1196del XP_011527112.1:p.Ser399Ter
XM_011528811.1:c.1165_1166del XP_011527113.1:p.Ser389Ter
XM_011528812.1:c.1195_1196del XP_011527114.1:p.Ser399Ter
XM_011528813.1:c.1069_1070del XP_011527115.1:p.Ser357Ter
XM_011528814.1:c.676_677del XP_011527116.1:p.Ser226Ter
XM_011528815.1:c.1195_1196del XP_011527117.1:p.Ser399Ter
NM_004518.5:c.1165_1166del VV NP_004509.2:p.Ser389Ter
NM_172106.2:c.1195_1196del VV NP_742104.1:p.Ser399Ter
NM_172107.3:c.1195_1196del VV NP_742105.1:p.Ser399Ter
NM_172108.4:c.1195_1196del VV NP_742106.1:p.Ser399Ter
XM_011528810.2:c.1195_1196del XP_011527112.1:p.Ser399Ter
XM_011528811.2:c.1165_1166del XP_011527113.1:p.Ser389Ter
XM_017027841.2:c.1195_1196del XP_016883330.1:p.Ser399Ter
XM_017027842.2:c.1195_1196del XP_016883331.1:p.Ser399Ter
XM_017027843.1:c.1126_1127del XP_016883332.1:p.Ser376Ter
XM_017027844.2:c.1195_1196del XP_016883333.1:p.Ser399Ter
ENST00000344462.8:c.1195_1196del ENSP00000339611.4:p.Ser399Ter
ENST00000357249.6:n.853_854del ENSP00000349789.3:p.Ser285Ter
ENST00000359125.6:c.1195_1196del ENSP00000352035.2:p.Ser399Ter
ENST00000360480.7:c.1165_1166del ENSP00000353668.3:p.Ser389Ter
ENST00000370221.3:n.1321_1322del
ENST00000370224.5:c.1165_1166del ENSP00000359244.2:p.Ser389Ter
ENST00000625514.2:c.1165_1166del ENSP00000486040.1:p.Ser389Ter
ENST00000626839.2:c.1195_1196del ENSP00000486706.1:p.Ser399Ter
ENST00000627221.2:n.309_310del
ENST00000629241.2:c.1165_1166del ENSP00000487142.1:p.Ser389Ter
ENST00000629676.2:c.1165_1166del ENSP00000486194.1:p.Ser389Ter