Canonical Allele Identifier: CA315312
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205848
dbSNP Id: rs201701585

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407198T>G , CM000682.2:g.63407198T>G GRCh38
NC_000020.10:g.62038551T>G , CM000682.1:g.62038551T>G GRCh37
NC_000020.9:g.61508995T>G NCBI36
NG_009004.1:g.70443A>C
NG_009004.2:g.70443A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.2119A>C ENSP00000516702.1:p.Ile707Leu
ENST00000359125.7:c.2065A>C MANE Select ENSP00000352035.2:p.Ile689Leu
ENST00000637193.1:c.1462A>C ENSP00000490734.1:p.Ile488Leu
ENST00000344462.8:c.1972A>C ENSP00000339611.4:p.Ile658Leu
ENST00000357249.6:c.1633A>C ENSP00000349789.3:p.Ile545Leu
ENST00000359125.6:c.2065A>C ENSP00000352035.2:p.Ile689Leu
ENST00000360480.7:c.1981A>C ENSP00000353668.3:p.Ile661Leu
ENST00000370224.5:c.2089A>C ENSP00000359244.2:p.Ile697Leu
ENST00000625514.2:c.2053A>C ENSP00000486040.1:p.Ile685Leu
ENST00000626839.2:c.2011A>C ENSP00000486706.1:p.Ile671Leu
ENST00000629241.2:c.1981A>C ENSP00000487142.1:p.Ile661Leu
ENST00000629676.2:c.1679+6252A>C ENSP00000486194.1:n.1679+6252A>C
NM_004518.4:c.1981A>C NP_004509.2:p.Ile661Leu
NM_172106.1:c.2011A>C NP_742104.1:p.Ile671Leu
NM_172107.2:c.2065A>C NP_742105.1:p.Ile689Leu
NM_172108.3:c.1972A>C NP_742106.1:p.Ile658Leu
XM_006723787.1:c.2107A>C XP_006723850.1:p.Ile703Leu
XM_011528807.1:c.2173A>C XP_011527109.1:p.Ile725Leu
XM_011528808.1:c.2170A>C XP_011527110.1:p.Ile724Leu
XM_011528809.1:c.2143A>C XP_011527111.1:p.Ile715Leu
XM_011528810.1:c.2119A>C XP_011527112.1:p.Ile707Leu
XM_011528811.1:c.2089A>C XP_011527113.1:p.Ile697Leu
XM_011528812.1:c.2062A>C XP_011527114.1:p.Ile688Leu
XM_011528813.1:c.2047A>C XP_011527115.1:p.Ile683Leu
XM_011528814.1:c.1654A>C XP_011527116.1:p.Ile552Leu
NM_004518.5:c.1981A>C NP_004509.2:p.Ile661Leu
NM_172106.2:c.2011A>C NP_742104.1:p.Ile671Leu
NM_172107.3:c.2065A>C NP_742105.1:p.Ile689Leu
NM_172108.4:c.1972A>C NP_742106.1:p.Ile658Leu
XM_011528810.2:c.2119A>C XP_011527112.1:p.Ile707Leu
XM_011528811.2:c.2089A>C XP_011527113.1:p.Ile697Leu
XM_017027841.2:c.2116A>C XP_016883330.1:p.Ile706Leu
XM_017027842.2:c.2053A>C XP_016883331.1:p.Ile685Leu
XM_017027843.1:c.2050A>C XP_016883332.1:p.Ile684Leu
XM_017027844.2:c.2008A>C XP_016883333.1:p.Ile670Leu
XM_017027845.1:c.1081A>C XP_016883334.1:p.Ile361Leu
NM_004518.6:c.1981A>C NP_004509.2:p.Ile661Leu
NM_172106.3:c.2011A>C NP_742104.1:p.Ile671Leu
NM_172107.4:c.2065A>C MANE Select NP_742105.1:p.Ile689Leu
NM_172108.5:c.1972A>C NP_742106.1:p.Ile658Leu
NM_001382235.1:c.2119A>C NP_001369164.1:p.Ile707Leu