Canonical Allele Identifier: CA315507
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 205925
ClinVar RCV Id: RCV000187927
dbSNP Id: rs766755499

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63407326T>C , CM000682.2:g.63407326T>C GRCh38
NC_000020.10:g.62038679T>C , CM000682.1:g.62038679T>C GRCh37
NC_000020.9:g.61509123T>C NCBI36
NG_009004.1:g.70315A>G
NG_009004.2:g.70315A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1991A>G ENSP00000516702.1:p.Gln664Arg
ENST00000359125.7:c.1937A>G MANE Select ENSP00000352035.2:p.Gln646Arg
ENST00000637193.1:c.1334A>G ENSP00000490734.1:p.Gln445Arg
ENST00000637338.1:n.94A>G
ENST00000344462.8:c.1844A>G ENSP00000339611.4:p.Gln615Arg
ENST00000357249.6:c.1505A>G ENSP00000349789.3:p.Gln502Arg
ENST00000359125.6:c.1937A>G ENSP00000352035.2:p.Gln646Arg
ENST00000360480.7:c.1853A>G ENSP00000353668.3:p.Gln618Arg
ENST00000370224.5:c.1961A>G ENSP00000359244.2:p.Gln654Arg
ENST00000625514.2:c.1925A>G ENSP00000486040.1:p.Gln642Arg
ENST00000626839.2:c.1883A>G ENSP00000486706.1:p.Gln628Arg
ENST00000629241.2:c.1853A>G ENSP00000487142.1:p.Gln618Arg
ENST00000629676.2:c.1679+6124A>G ENSP00000486194.1:n.1679+6124A>G
NM_004518.4:c.1853A>G NP_004509.2:p.Gln618Arg
NM_172106.1:c.1883A>G NP_742104.1:p.Gln628Arg
NM_172107.2:c.1937A>G NP_742105.1:p.Gln646Arg
NM_172108.3:c.1844A>G NP_742106.1:p.Gln615Arg
XM_006723787.1:c.1979A>G XP_006723850.1:p.Gln660Arg
XM_011528807.1:c.2045A>G XP_011527109.1:p.Gln682Arg
XM_011528808.1:c.2042A>G XP_011527110.1:p.Gln681Arg
XM_011528809.1:c.2015A>G XP_011527111.1:p.Gln672Arg
XM_011528810.1:c.1991A>G XP_011527112.1:p.Gln664Arg
XM_011528811.1:c.1961A>G XP_011527113.1:p.Gln654Arg
XM_011528812.1:c.1934A>G XP_011527114.1:p.Gln645Arg
XM_011528813.1:c.1919A>G XP_011527115.1:p.Gln640Arg
XM_011528814.1:c.1526A>G XP_011527116.1:p.Gln509Arg
NM_004518.5:c.1853A>G NP_004509.2:p.Gln618Arg
NM_172106.2:c.1883A>G NP_742104.1:p.Gln628Arg
NM_172107.3:c.1937A>G NP_742105.1:p.Gln646Arg
NM_172108.4:c.1844A>G NP_742106.1:p.Gln615Arg
XM_011528810.2:c.1991A>G XP_011527112.1:p.Gln664Arg
XM_011528811.2:c.1961A>G XP_011527113.1:p.Gln654Arg
XM_017027841.2:c.1988A>G XP_016883330.1:p.Gln663Arg
XM_017027842.2:c.1925A>G XP_016883331.1:p.Gln642Arg
XM_017027843.1:c.1922A>G XP_016883332.1:p.Gln641Arg
XM_017027844.2:c.1880A>G XP_016883333.1:p.Gln627Arg
XM_017027845.1:c.953A>G XP_016883334.1:p.Gln318Arg
NM_004518.6:c.1853A>G NP_004509.2:p.Gln618Arg
NM_172106.3:c.1883A>G NP_742104.1:p.Gln628Arg
NM_172107.4:c.1937A>G MANE Select NP_742105.1:p.Gln646Arg
NM_172108.5:c.1844A>G NP_742106.1:p.Gln615Arg
NM_001382235.1:c.1991A>G NP_001369164.1:p.Gln664Arg