Canonical Allele Identifier: CA10654802
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369777
dbSNP Id: rs1057516105

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63433897A>G , CM000682.2:g.63433897A>G GRCh38
NC_000020.10:g.62065250A>G , CM000682.1:g.62065250A>G GRCh37
NC_000020.9:g.61535694A>G NCBI36
NG_009004.1:g.43744T>C
NG_009004.2:g.43744T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1030T>C ENSP00000516702.1:p.Trp344Arg
ENST00000344425.8:c.1030T>C ENSP00000345523.5:p.Trp344Arg
ENST00000359125.7:c.1030T>C MANE Select ENSP00000352035.2:p.Trp344Arg
ENST00000636255.1:n.768T>C
ENST00000637193.1:c.511T>C ENSP00000490734.1:p.Trp171Arg
ENST00000344425.7:c.1030T>C ENSP00000345523.5:p.Trp344Arg
ENST00000344462.8:c.1030T>C ENSP00000339611.4:p.Trp344Arg
ENST00000357249.6:c.688T>C ENSP00000349789.3:p.Trp230Arg
ENST00000359125.6:c.1030T>C ENSP00000352035.2:p.Trp344Arg
ENST00000360480.7:c.1030T>C ENSP00000353668.3:p.Trp344Arg
ENST00000370221.3:n.1156T>C
ENST00000370224.5:c.1030T>C ENSP00000359244.2:p.Trp344Arg
ENST00000482957.1:n.381T>C
ENST00000625514.2:c.1030T>C ENSP00000486040.1:p.Trp344Arg
ENST00000626839.2:c.1030T>C ENSP00000486706.1:p.Trp344Arg
ENST00000627221.2:c.174T>C
ENST00000629241.2:c.1030T>C ENSP00000487142.1:p.Trp344Arg
ENST00000629498.2:c.503T>C ENSP00000486509.1:n.503T>C
ENST00000629676.2:c.1030T>C ENSP00000486194.1:p.Trp344Arg
NM_004518.4:c.1030T>C NP_004509.2:p.Trp344Arg
NM_172106.1:c.1030T>C NP_742104.1:p.Trp344Arg
NM_172107.2:c.1030T>C NP_742105.1:p.Trp344Arg
NM_172108.3:c.1030T>C NP_742106.1:p.Trp344Arg
NM_172109.1:c.1030T>C NP_742107.1:p.Trp344Arg
XM_006723787.1:c.1030T>C XP_006723850.1:p.Trp344Arg
XM_011528807.1:c.1030T>C XP_011527109.1:p.Trp344Arg
XM_011528808.1:c.1030T>C XP_011527110.1:p.Trp344Arg
XM_011528809.1:c.1030T>C XP_011527111.1:p.Trp344Arg
XM_011528810.1:c.1030T>C XP_011527112.1:p.Trp344Arg
XM_011528811.1:c.1030T>C XP_011527113.1:p.Trp344Arg
XM_011528812.1:c.1030T>C XP_011527114.1:p.Trp344Arg
XM_011528813.1:c.904T>C XP_011527115.1:p.Trp302Arg
XM_011528814.1:c.511T>C XP_011527116.1:p.Trp171Arg
XM_011528815.1:c.1030T>C XP_011527117.1:p.Trp344Arg
NM_004518.5:c.1030T>C NP_004509.2:p.Trp344Arg
NM_172106.2:c.1030T>C NP_742104.1:p.Trp344Arg
NM_172107.3:c.1030T>C NP_742105.1:p.Trp344Arg
NM_172108.4:c.1030T>C NP_742106.1:p.Trp344Arg
NM_172109.2:c.1030T>C NP_742107.1:p.Trp344Arg
XM_011528810.2:c.1030T>C XP_011527112.1:p.Trp344Arg
XM_011528811.2:c.1030T>C XP_011527113.1:p.Trp344Arg
XM_017027841.2:c.1030T>C XP_016883330.1:p.Trp344Arg
XM_017027842.2:c.1030T>C XP_016883331.1:p.Trp344Arg
XM_017027843.1:c.961T>C XP_016883332.1:p.Trp321Arg
XM_017027844.2:c.1030T>C XP_016883333.1:p.Trp344Arg
NM_004518.6:c.1030T>C NP_004509.2:p.Trp344Arg
NM_172106.3:c.1030T>C NP_742104.1:p.Trp344Arg
NM_172107.4:c.1030T>C MANE Select NP_742105.1:p.Trp344Arg
NM_172108.5:c.1030T>C NP_742106.1:p.Trp344Arg
NM_172109.3:c.1030T>C NP_742107.1:p.Trp344Arg
NM_001382235.1:c.1030T>C NP_001369164.1:p.Trp344Arg