Canonical Allele Identifier: CA409636810

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 502110
• ClinVar RCV Id: RCV000591472 ; RCV001069245
• dbSNP Id: rs1555850289
• gnomAD v4: 20-63406763-T-C
• MyVariant Identifiers: chr20:g.62038116T>C (hg19) ; chr20:g.63406763T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406763T>C , CM000682.2:g.63406763T>C	GRCh38
NC_000020.10:g.62038116T>C , CM000682.1:g.62038116T>C	GRCh37
NC_000020.9:g.61508560T>C	NCBI36
NG_009004.1:g.70878A>G
NG_009004.2:g.70878A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2554A>G	ENSP00000516702.1:p.Ile852Val
ENST00000359125.7:c.2500A>G MANE Select	ENSP00000352035.2:p.Ile834Val
ENST00000637193.1:c.1897A>G	ENSP00000490734.1:p.Ile633Val
ENST00000344462.8:c.2407A>G	ENSP00000339611.4:p.Ile803Val
ENST00000357249.6:c.2068A>G	ENSP00000349789.3:p.Ile690Val
ENST00000359125.6:c.2500A>G	ENSP00000352035.2:p.Ile834Val
ENST00000360480.7:c.2416A>G	ENSP00000353668.3:p.Ile806Val
ENST00000370224.5:c.2241+283A>G	ENSP00000359244.2:n.2241+283A>G
ENST00000625514.2:c.2205+283A>G	ENSP00000486040.1:n.2205+283A>G
ENST00000626839.2:c.2446A>G	ENSP00000486706.1:p.Ile816Val
ENST00000629241.2:c.2133+283A>G	ENSP00000487142.1:n.2133+283A>G
ENST00000629676.2:c.1680-5920A>G	ENSP00000486194.1:n.1680-5920A>G
NM_004518.4:c.2416A>G	NP_004509.2:p.Ile806Val
NM_172106.1:c.2446A>G	NP_742104.1:p.Ile816Val
NM_172107.2:c.2500A>G	NP_742105.1:p.Ile834Val
NM_172108.3:c.2407A>G	NP_742106.1:p.Ile803Val
XM_006723787.1:c.2542A>G	XP_006723850.1:p.Ile848Val
XM_011528807.1:c.2608A>G	XP_011527109.1:p.Ile870Val
XM_011528808.1:c.2605A>G	XP_011527110.1:p.Ile869Val
XM_011528809.1:c.2578A>G	XP_011527111.1:p.Ile860Val
XM_011528810.1:c.2554A>G	XP_011527112.1:p.Ile852Val
XM_011528811.1:c.2524A>G	XP_011527113.1:p.Ile842Val
XM_011528812.1:c.2497A>G	XP_011527114.1:p.Ile833Val
XM_011528813.1:c.2482A>G	XP_011527115.1:p.Ile828Val
XM_011528814.1:c.2089A>G	XP_011527116.1:p.Ile697Val
NM_004518.5:c.2416A>G	NP_004509.2:p.Ile806Val
NM_172106.2:c.2446A>G	NP_742104.1:p.Ile816Val
NM_172107.3:c.2500A>G	NP_742105.1:p.Ile834Val
NM_172108.4:c.2407A>G	NP_742106.1:p.Ile803Val
XM_011528810.2:c.2554A>G	XP_011527112.1:p.Ile852Val
XM_011528811.2:c.2524A>G	XP_011527113.1:p.Ile842Val
XM_017027841.2:c.2551A>G	XP_016883330.1:p.Ile851Val
XM_017027842.2:c.2488A>G	XP_016883331.1:p.Ile830Val
XM_017027843.1:c.2485A>G	XP_016883332.1:p.Ile829Val
XM_017027844.2:c.2443A>G	XP_016883333.1:p.Ile815Val
XM_017027845.1:c.1516A>G	XP_016883334.1:p.Ile506Val
NM_004518.6:c.2416A>G	NP_004509.2:p.Ile806Val
NM_172106.3:c.2446A>G	NP_742104.1:p.Ile816Val
NM_172107.4:c.2500A>G MANE Select	NP_742105.1:p.Ile834Val
NM_172108.5:c.2407A>G	NP_742106.1:p.Ile803Val
NM_001382235.1:c.2554A>G	NP_001369164.1:p.Ile852Val