Canonical Allele Identifier: CA409639004

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1051022
• ClinVar RCV Id: RCV001359004 ; RCV002280179
• dbSNP Id: rs1426709866
• gnomAD v2: 20-62038521-T-C
• gnomAD v4: 20-63407168-T-C
• MyVariant Identifiers: chr20:g.62038521T>C (hg19) ; chr20:g.63407168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407168T>C , CM000682.2:g.63407168T>C	GRCh38
NC_000020.10:g.62038521T>C , CM000682.1:g.62038521T>C	GRCh37
NC_000020.9:g.61508965T>C	NCBI36
NG_009004.1:g.70473A>G
NG_009004.2:g.70473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2149A>G	ENSP00000516702.1:p.Lys717Glu
ENST00000359125.7:c.2095A>G MANE Select	ENSP00000352035.2:p.Lys699Glu
ENST00000637193.1:c.1492A>G	ENSP00000490734.1:p.Lys498Glu
ENST00000344462.8:c.2002A>G	ENSP00000339611.4:p.Lys668Glu
ENST00000357249.6:c.1663A>G	ENSP00000349789.3:p.Lys555Glu
ENST00000359125.6:c.2095A>G	ENSP00000352035.2:p.Lys699Glu
ENST00000360480.7:c.2011A>G	ENSP00000353668.3:p.Lys671Glu
ENST00000370224.5:c.2119A>G	ENSP00000359244.2:p.Lys707Glu
ENST00000625514.2:c.2083A>G	ENSP00000486040.1:p.Lys695Glu
ENST00000626839.2:c.2041A>G	ENSP00000486706.1:p.Lys681Glu
ENST00000629241.2:c.2011A>G	ENSP00000487142.1:p.Lys671Glu
ENST00000629676.2:c.1679+6282A>G	ENSP00000486194.1:n.1679+6282A>G
NM_004518.4:c.2011A>G	NP_004509.2:p.Lys671Glu
NM_172106.1:c.2041A>G	NP_742104.1:p.Lys681Glu
NM_172107.2:c.2095A>G	NP_742105.1:p.Lys699Glu
NM_172108.3:c.2002A>G	NP_742106.1:p.Lys668Glu
XM_006723787.1:c.2137A>G	XP_006723850.1:p.Lys713Glu
XM_011528807.1:c.2203A>G	XP_011527109.1:p.Lys735Glu
XM_011528808.1:c.2200A>G	XP_011527110.1:p.Lys734Glu
XM_011528809.1:c.2173A>G	XP_011527111.1:p.Lys725Glu
XM_011528810.1:c.2149A>G	XP_011527112.1:p.Lys717Glu
XM_011528811.1:c.2119A>G	XP_011527113.1:p.Lys707Glu
XM_011528812.1:c.2092A>G	XP_011527114.1:p.Lys698Glu
XM_011528813.1:c.2077A>G	XP_011527115.1:p.Lys693Glu
XM_011528814.1:c.1684A>G	XP_011527116.1:p.Lys562Glu
NM_004518.5:c.2011A>G	NP_004509.2:p.Lys671Glu
NM_172106.2:c.2041A>G	NP_742104.1:p.Lys681Glu
NM_172107.3:c.2095A>G	NP_742105.1:p.Lys699Glu
NM_172108.4:c.2002A>G	NP_742106.1:p.Lys668Glu
XM_011528810.2:c.2149A>G	XP_011527112.1:p.Lys717Glu
XM_011528811.2:c.2119A>G	XP_011527113.1:p.Lys707Glu
XM_017027841.2:c.2146A>G	XP_016883330.1:p.Lys716Glu
XM_017027842.2:c.2083A>G	XP_016883331.1:p.Lys695Glu
XM_017027843.1:c.2080A>G	XP_016883332.1:p.Lys694Glu
XM_017027844.2:c.2038A>G	XP_016883333.1:p.Lys680Glu
XM_017027845.1:c.1111A>G	XP_016883334.1:p.Lys371Glu
NM_004518.6:c.2011A>G	NP_004509.2:p.Lys671Glu
NM_172106.3:c.2041A>G	NP_742104.1:p.Lys681Glu
NM_172107.4:c.2095A>G MANE Select	NP_742105.1:p.Lys699Glu
NM_172108.5:c.2002A>G	NP_742106.1:p.Lys668Glu
NM_001382235.1:c.2149A>G	NP_001369164.1:p.Lys717Glu