LDH info

Canonical Allele Identifier: CA16620978
Gene: KCNQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 422997
ClinVar RCV Id: RCV000480357
dbSNP Id: rs1064796151

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63446806_63446809del , CM000682.2:g.63446806_63446809del GRCh38
NC_000020.10:g.62078159_62078162del , CM000682.1:g.62078159_62078162del GRCh37
NC_000020.9:g.61548603_61548606del NCBI36
NG_009004.1:g.30836_30839del
NG_009004.2:g.30836_30839del

Transcript Alleles

HGVS Amino-acid change
NM_004518.4:c.329_332del VV NP_004509.2:p.Ser110CysfsTer22
NM_172106.1:c.329_332del VV NP_742104.1:p.Ser110CysfsTer22
NM_172107.2:c.329_332del VV NP_742105.1:p.Ser110CysfsTer22
NM_172108.3:c.329_332del VV NP_742106.1:p.Ser110CysfsTer22
NM_172109.1:c.329_332del VV NP_742107.1:p.Ser110CysfsTer22
XM_006723787.1:c.329_332del XP_006723850.1:p.Ser110CysfsTer22
XM_011528807.1:c.329_332del XP_011527109.1:p.Ser110CysfsTer22
XM_011528808.1:c.329_332del XP_011527110.1:p.Ser110CysfsTer22
XM_011528809.1:c.329_332del XP_011527111.1:p.Ser110CysfsTer22
XM_011528810.1:c.329_332del XP_011527112.1:p.Ser110CysfsTer22
XM_011528811.1:c.329_332del XP_011527113.1:p.Ser110CysfsTer22
XM_011528812.1:c.329_332del XP_011527114.1:p.Ser110CysfsTer22
XM_011528813.1:c.329_332del XP_011527115.1:p.Ser110CysfsTer22
XM_011528815.1:c.329_332del XP_011527117.1:p.Ser110CysfsTer22
XM_011528816.1:c.329_332del XP_011527118.1:p.Ser110CysfsTer22
NM_004518.5:c.329_332del VV NP_004509.2:p.Ser110CysfsTer22
NM_172106.2:c.329_332del VV NP_742104.1:p.Ser110CysfsTer22
NM_172107.3:c.329_332del VV NP_742105.1:p.Ser110CysfsTer22
NM_172108.4:c.329_332del VV NP_742106.1:p.Ser110CysfsTer22
NM_172109.2:c.329_332del VV NP_742107.1:p.Ser110CysfsTer22
XM_011528810.2:c.329_332del XP_011527112.1:p.Ser110CysfsTer22
XM_011528811.2:c.329_332del XP_011527113.1:p.Ser110CysfsTer22
XM_017027841.2:c.329_332del XP_016883330.1:p.Ser110CysfsTer22
XM_017027842.2:c.329_332del XP_016883331.1:p.Ser110CysfsTer22
XM_017027843.1:c.260_263del XP_016883332.1:p.Ser87CysfsTer22
XM_017027844.2:c.329_332del XP_016883333.1:p.Ser110CysfsTer22
NM_004518.6:c.329_332del VV NP_004509.2:p.Ser110CysfsTer22
NM_172106.3:c.329_332del VV NP_742104.1:p.Ser110CysfsTer22
NM_172107.4:c.329_332del VV NP_742105.1:p.Ser110CysfsTer22
NM_172108.5:c.329_332del VV NP_742106.1:p.Ser110CysfsTer22
NM_172109.3:c.329_332del VV NP_742107.1:p.Ser110CysfsTer22
ENST00000344425.7:c.329_332del ENSP00000345523.5:p.Ser110CysfsTer22
ENST00000344462.8:c.329_332del ENSP00000339611.4:p.Ser110CysfsTer22
ENST00000359125.6:c.329_332del ENSP00000352035.2:p.Ser110CysfsTer22
ENST00000360480.7:c.329_332del ENSP00000353668.3:p.Ser110CysfsTer22
ENST00000370221.3:n.455_458del
ENST00000370224.5:c.329_332del ENSP00000359244.2:p.Ser110CysfsTer22
ENST00000625514.2:c.329_332del ENSP00000486040.1:p.Ser110CysfsTer22
ENST00000626313.1:n.171_174del
ENST00000626839.2:c.329_332del ENSP00000486706.1:p.Ser110CysfsTer22
ENST00000629241.2:c.329_332del ENSP00000487142.1:p.Ser110CysfsTer22
ENST00000629676.2:c.329_332del ENSP00000486194.1:p.Ser110CysfsTer22