Canonical Allele Identifier: CA315443
Gene: KCNQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 21762
dbSNP Id: rs118192226

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63415086G>A , CM000682.2:g.63415086G>A GRCh38
NC_000020.9:g.61516883G>A NCBI36
NC_000020.10:g.62046439G>A , CM000682.1:g.62046439G>A GRCh37
NG_009004.1:g.62555C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000344462.8:c.1252C>T ENSP00000339611.4:p.Arg418Ter
ENST00000357249.6:n.910C>T ENSP00000349789.3:p.Arg304Ter
ENST00000359125.6:c.1342C>T ENSP00000352035.2:p.Arg448Ter
ENST00000360480.7:c.1258C>T ENSP00000353668.3:p.Arg420Ter
ENST00000370224.5:c.1258C>T ENSP00000359244.2:p.Arg420Ter
ENST00000625514.2:c.1222C>T ENSP00000486040.1:p.Arg408Ter
ENST00000626839.2:c.1288C>T ENSP00000486706.1:p.Arg430Ter
ENST00000627221.2:n.402C>T
ENST00000629241.2:c.1258C>T ENSP00000487142.1:p.Arg420Ter
ENST00000629676.2:c.1258C>T ENSP00000486194.1:p.Arg420Ter
NM_004518.4:c.1258C>T VV NP_004509.2:p.Arg420Ter
NM_172106.1:c.1288C>T VV NP_742104.1:p.Arg430Ter
NM_172107.2:c.1342C>T VV NP_742105.1:p.Arg448Ter
NM_172108.3:c.1252C>T VV NP_742106.1:p.Arg418Ter
XM_006723787.1:c.1342C>T XP_006723850.1:p.Arg448Ter
XM_011528807.1:c.1342C>T XP_011527109.1:p.Arg448Ter
XM_011528808.1:c.1342C>T XP_011527110.1:p.Arg448Ter
XM_011528809.1:c.1312C>T XP_011527111.1:p.Arg438Ter
XM_011528810.1:c.1288C>T XP_011527112.1:p.Arg430Ter
XM_011528811.1:c.1258C>T XP_011527113.1:p.Arg420Ter
XM_011528812.1:c.1342C>T XP_011527114.1:p.Arg448Ter
XM_011528813.1:c.1216C>T XP_011527115.1:p.Arg406Ter
XM_011528814.1:c.823C>T XP_011527116.1:p.Arg275Ter
XM_011528815.1:c.1342C>T XP_011527117.1:p.Arg448Ter