Canonical Allele Identifier: CA288924
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21764
dbSNP Id: rs117067974

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63414174C>G , CM000682.2:g.63414174C>G GRCh38
NC_000020.10:g.62045527C>G , CM000682.1:g.62045527C>G GRCh37
NC_000020.9:g.61515971C>G NCBI36
NG_009004.1:g.63467G>C
NG_009004.2:g.63467G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.1491G>C ENSP00000516702.1:p.Glu497Asp
ENST00000359125.7:c.1545G>C MANE Select ENSP00000352035.2:p.Glu515Asp
ENST00000637193.1:c.942G>C ENSP00000490734.1:p.Glu314Asp
ENST00000344462.8:c.1452G>C ENSP00000339611.4:p.Glu484Asp
ENST00000357249.6:c.1113G>C ENSP00000349789.3:p.Glu371Asp
ENST00000359125.6:c.1545G>C ENSP00000352035.2:p.Glu515Asp
ENST00000360480.7:c.1461G>C ENSP00000353668.3:p.Glu487Asp
ENST00000370224.5:c.1461G>C ENSP00000359244.2:p.Glu487Asp
ENST00000625514.2:c.1425G>C ENSP00000486040.1:p.Glu475Asp
ENST00000626839.2:c.1491G>C ENSP00000486706.1:p.Glu497Asp
ENST00000627221.2:c.602G>C
ENST00000629241.2:c.1461G>C ENSP00000487142.1:p.Glu487Asp
ENST00000629318.1:c.153G>C ENSP00000487384.1:p.Glu51Asp
ENST00000629676.2:c.1461G>C ENSP00000486194.1:p.Glu487Asp
NM_004518.4:c.1461G>C NP_004509.2:p.Glu487Asp
NM_172106.1:c.1491G>C NP_742104.1:p.Glu497Asp
NM_172107.2:c.1545G>C NP_742105.1:p.Glu515Asp
NM_172108.3:c.1452G>C NP_742106.1:p.Glu484Asp
XM_006723787.1:c.1545G>C XP_006723850.1:p.Glu515Asp
XM_011528807.1:c.1545G>C XP_011527109.1:p.Glu515Asp
XM_011528808.1:c.1542G>C XP_011527110.1:p.Glu514Asp
XM_011528809.1:c.1515G>C XP_011527111.1:p.Glu505Asp
XM_011528810.1:c.1491G>C XP_011527112.1:p.Glu497Asp
XM_011528811.1:c.1461G>C XP_011527113.1:p.Glu487Asp
XM_011528812.1:c.1542G>C XP_011527114.1:p.Glu514Asp
XM_011528813.1:c.1419G>C XP_011527115.1:p.Glu473Asp
XM_011528814.1:c.1026G>C XP_011527116.1:p.Glu342Asp
XM_011528815.1:c.1545G>C XP_011527117.1:p.Glu515Asp
NM_004518.5:c.1461G>C NP_004509.2:p.Glu487Asp
NM_172106.2:c.1491G>C NP_742104.1:p.Glu497Asp
NM_172107.3:c.1545G>C NP_742105.1:p.Glu515Asp
NM_172108.4:c.1452G>C NP_742106.1:p.Glu484Asp
XM_011528810.2:c.1491G>C XP_011527112.1:p.Glu497Asp
XM_011528811.2:c.1461G>C XP_011527113.1:p.Glu487Asp
XM_017027841.2:c.1488G>C XP_016883330.1:p.Glu496Asp
XM_017027842.2:c.1491G>C XP_016883331.1:p.Glu497Asp
XM_017027843.1:c.1422G>C XP_016883332.1:p.Glu474Asp
XM_017027844.2:c.1488G>C XP_016883333.1:p.Glu496Asp
XM_017027845.1:c.453G>C XP_016883334.1:p.Glu151Asp
NM_004518.6:c.1461G>C NP_004509.2:p.Glu487Asp
NM_172106.3:c.1491G>C NP_742104.1:p.Glu497Asp
NM_172107.4:c.1545G>C MANE Select NP_742105.1:p.Glu515Asp
NM_172108.5:c.1452G>C NP_742106.1:p.Glu484Asp
NM_001382235.1:c.1491G>C NP_001369164.1:p.Glu497Asp