Canonical Allele Identifier: CA342475
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21770
ClinVar RCV Id: RCV000678063
dbSNP Id: rs118192237

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63408536T>A , CM000682.2:g.63408536T>A GRCh38
NC_000020.10:g.62039889T>A , CM000682.1:g.62039889T>A GRCh37
NC_000020.9:g.61510333T>A NCBI36
NG_009004.1:g.69105A>T
NG_009004.2:g.69105A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.1818A>T ENSP00000516702.1:p.Arg606Ser
ENST00000359125.7:c.1764A>T MANE Select ENSP00000352035.2:p.Arg588Ser
ENST00000636614.1:c.90A>T
ENST00000637193.1:c.1161A>T ENSP00000490734.1:p.Arg387Ser
ENST00000344462.8:c.1671A>T ENSP00000339611.4:p.Arg557Ser
ENST00000357249.6:c.1332A>T ENSP00000349789.3:p.Arg444Ser
ENST00000359125.6:c.1764A>T ENSP00000352035.2:p.Arg588Ser
ENST00000360480.7:c.1680A>T ENSP00000353668.3:p.Arg560Ser
ENST00000370224.5:c.1788A>T ENSP00000359244.2:p.Arg596Ser
ENST00000625514.2:c.1752A>T ENSP00000486040.1:p.Arg584Ser
ENST00000626839.2:c.1710A>T ENSP00000486706.1:p.Arg570Ser
ENST00000629241.2:c.1680A>T ENSP00000487142.1:p.Arg560Ser
ENST00000629676.2:c.1679+4914A>T ENSP00000486194.1:n.1679+4914A>T
NM_004518.4:c.1680A>T NP_004509.2:p.Arg560Ser
NM_172106.1:c.1710A>T NP_742104.1:p.Arg570Ser
NM_172107.2:c.1764A>T NP_742105.1:p.Arg588Ser
NM_172108.3:c.1671A>T NP_742106.1:p.Arg557Ser
XM_006723787.1:c.1806A>T XP_006723850.1:p.Gly602=
XM_011528807.1:c.1872A>T XP_011527109.1:p.Arg624Ser
XM_011528808.1:c.1869A>T XP_011527110.1:p.Arg623Ser
XM_011528809.1:c.1842A>T XP_011527111.1:p.Arg614Ser
XM_011528810.1:c.1818A>T XP_011527112.1:p.Arg606Ser
XM_011528811.1:c.1788A>T XP_011527113.1:p.Arg596Ser
XM_011528812.1:c.1761A>T XP_011527114.1:p.Arg587Ser
XM_011528813.1:c.1746A>T XP_011527115.1:p.Arg582Ser
XM_011528814.1:c.1353A>T XP_011527116.1:p.Arg451Ser
XM_011528815.1:c.1872A>T XP_011527117.1:p.Arg624Ser
NM_004518.5:c.1680A>T NP_004509.2:p.Arg560Ser
NM_172106.2:c.1710A>T NP_742104.1:p.Arg570Ser
NM_172107.3:c.1764A>T NP_742105.1:p.Arg588Ser
NM_172108.4:c.1671A>T NP_742106.1:p.Arg557Ser
XM_011528810.2:c.1818A>T XP_011527112.1:p.Arg606Ser
XM_011528811.2:c.1788A>T XP_011527113.1:p.Arg596Ser
XM_017027841.2:c.1815A>T XP_016883330.1:p.Arg605Ser
XM_017027842.2:c.1752A>T XP_016883331.1:p.Gly584=
XM_017027843.1:c.1749A>T XP_016883332.1:p.Arg583Ser
XM_017027844.2:c.1707A>T XP_016883333.1:p.Arg569Ser
XM_017027845.1:c.780A>T XP_016883334.1:p.Arg260Ser
NM_004518.6:c.1680A>T NP_004509.2:p.Arg560Ser
NM_172106.3:c.1710A>T NP_742104.1:p.Arg570Ser
NM_172107.4:c.1764A>T MANE Select NP_742105.1:p.Arg588Ser
NM_172108.5:c.1671A>T NP_742106.1:p.Arg557Ser
NM_001382235.1:c.1818A>T NP_001369164.1:p.Arg606Ser