Canonical Allele Identifier: CA10654829
Gene: KCNQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 369748
dbSNP Id: rs1057516082

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63444826C>G , CM000682.2:g.63444826C>G GRCh38
NC_000020.9:g.61546623C>G NCBI36
NC_000020.10:g.62076179C>G , CM000682.1:g.62076179C>G GRCh37
NG_009004.1:g.32815G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000344425.7:c.523G>C ENSP00000345523.5:p.Val175Leu
ENST00000344462.8:c.523G>C ENSP00000339611.4:p.Val175Leu
ENST00000357249.6:n.181G>C ENSP00000349789.3:p.Val61Leu
ENST00000359125.6:c.523G>C ENSP00000352035.2:p.Val175Leu
ENST00000360480.7:c.523G>C ENSP00000353668.3:p.Val175Leu
ENST00000370221.3:n.649G>C
ENST00000370224.5:c.523G>C ENSP00000359244.2:p.Val175Leu
ENST00000625514.2:c.523G>C ENSP00000486040.1:p.Val175Leu
ENST00000626313.1:n.365G>C
ENST00000626839.2:c.523G>C ENSP00000486706.1:p.Val175Leu
ENST00000629241.2:c.523G>C ENSP00000487142.1:p.Val175Leu
ENST00000629676.2:c.523G>C ENSP00000486194.1:p.Val175Leu
ENST00000630274.2:n.348G>C
NM_004518.4:c.523G>C VV NP_004509.2:p.Val175Leu
NM_172106.1:c.523G>C VV NP_742104.1:p.Val175Leu
NM_172107.2:c.523G>C VV NP_742105.1:p.Val175Leu
NM_172108.3:c.523G>C VV NP_742106.1:p.Val175Leu
NM_172109.1:c.523G>C VV NP_742107.1:p.Val175Leu
XM_006723787.1:c.523G>C XP_006723850.1:p.Val175Leu
XM_011528807.1:c.523G>C XP_011527109.1:p.Val175Leu
XM_011528808.1:c.523G>C XP_011527110.1:p.Val175Leu
XM_011528809.1:c.523G>C XP_011527111.1:p.Val175Leu
XM_011528810.1:c.523G>C XP_011527112.1:p.Val175Leu
XM_011528811.1:c.523G>C XP_011527113.1:p.Val175Leu
XM_011528812.1:c.523G>C XP_011527114.1:p.Val175Leu
XM_011528813.1:c.523G>C XP_011527115.1:p.Val175Leu
XM_011528814.1:c.4G>C XP_011527116.1:p.Val2Leu
XM_011528815.1:c.523G>C XP_011527117.1:p.Val175Leu
XM_011528816.1:c.523G>C XP_011527118.1:p.Val175Leu