Canonical Allele Identifier: CA9958853
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2573139
ClinVar RCV Id: RCV003315386
dbSNP Id: rs752331818

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63446791T>G , CM000682.2:g.63446791T>G GRCh38
NC_000020.10:g.62078144T>G , CM000682.1:g.62078144T>G GRCh37
NC_000020.9:g.61548588T>G NCBI36
NG_009004.1:g.30850A>C
NG_009004.2:g.30850A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.343A>C ENSP00000516702.1:p.Ile115Leu
ENST00000344425.8:c.343A>C ENSP00000345523.5:p.Ile115Leu
ENST00000359125.7:c.343A>C MANE Select ENSP00000352035.2:p.Ile115Leu
ENST00000636065.1:n.129A>C
ENST00000636255.1:n.81A>C
ENST00000636623.1:n.104A>C
ENST00000637133.1:n.116A>C
ENST00000637193.1:c.-177A>C ENSP00000490734.1:n.-177A>C
ENST00000637772.1:n.76A>C
ENST00000637803.1:n.141A>C
ENST00000344425.7:c.343A>C ENSP00000345523.5:p.Ile115Leu
ENST00000344462.8:c.343A>C ENSP00000339611.4:p.Ile115Leu
ENST00000357249.6:c.1A>C ENSP00000349789.3:p.Ile1Leu
ENST00000359125.6:c.343A>C ENSP00000352035.2:p.Ile115Leu
ENST00000360480.7:c.343A>C ENSP00000353668.3:p.Ile115Leu
ENST00000370221.3:n.469A>C
ENST00000370224.5:c.343A>C ENSP00000359244.2:p.Ile115Leu
ENST00000625514.2:c.343A>C ENSP00000486040.1:p.Ile115Leu
ENST00000626313.1:n.185A>C
ENST00000626839.2:c.343A>C ENSP00000486706.1:p.Ile115Leu
ENST00000629241.2:c.343A>C ENSP00000487142.1:p.Ile115Leu
ENST00000629676.2:c.343A>C ENSP00000486194.1:p.Ile115Leu
NM_004518.4:c.343A>C NP_004509.2:p.Ile115Leu
NM_172106.1:c.343A>C NP_742104.1:p.Ile115Leu
NM_172107.2:c.343A>C NP_742105.1:p.Ile115Leu
NM_172108.3:c.343A>C NP_742106.1:p.Ile115Leu
NM_172109.1:c.343A>C NP_742107.1:p.Ile115Leu
XM_006723787.1:c.343A>C XP_006723850.1:p.Ile115Leu
XM_011528807.1:c.343A>C XP_011527109.1:p.Ile115Leu
XM_011528808.1:c.343A>C XP_011527110.1:p.Ile115Leu
XM_011528809.1:c.343A>C XP_011527111.1:p.Ile115Leu
XM_011528810.1:c.343A>C XP_011527112.1:p.Ile115Leu
XM_011528811.1:c.343A>C XP_011527113.1:p.Ile115Leu
XM_011528812.1:c.343A>C XP_011527114.1:p.Ile115Leu
XM_011528813.1:c.343A>C XP_011527115.1:p.Ile115Leu
XM_011528815.1:c.343A>C XP_011527117.1:p.Ile115Leu
XM_011528816.1:c.343A>C XP_011527118.1:p.Ile115Leu
NM_004518.5:c.343A>C NP_004509.2:p.Ile115Leu
NM_172106.2:c.343A>C NP_742104.1:p.Ile115Leu
NM_172107.3:c.343A>C NP_742105.1:p.Ile115Leu
NM_172108.4:c.343A>C NP_742106.1:p.Ile115Leu
NM_172109.2:c.343A>C NP_742107.1:p.Ile115Leu
XM_011528810.2:c.343A>C XP_011527112.1:p.Ile115Leu
XM_011528811.2:c.343A>C XP_011527113.1:p.Ile115Leu
XM_017027841.2:c.343A>C XP_016883330.1:p.Ile115Leu
XM_017027842.2:c.343A>C XP_016883331.1:p.Ile115Leu
XM_017027843.1:c.274A>C XP_016883332.1:p.Ile92Leu
XM_017027844.2:c.343A>C XP_016883333.1:p.Ile115Leu
NM_004518.6:c.343A>C NP_004509.2:p.Ile115Leu
NM_172106.3:c.343A>C NP_742104.1:p.Ile115Leu
NM_172107.4:c.343A>C MANE Select NP_742105.1:p.Ile115Leu
NM_172108.5:c.343A>C NP_742106.1:p.Ile115Leu
NM_172109.3:c.343A>C NP_742107.1:p.Ile115Leu
NM_001382235.1:c.343A>C NP_001369164.1:p.Ile115Leu