Canonical Allele Identifier: CA409637168

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1202025157
• gnomAD v4: 20-63406844-T-C
• COSMIC: COSM4100343 ; COSM4100344 ; COSM4100345
• MyVariant Identifiers: chr20:g.62038197T>C (hg19) ; chr20:g.63406844T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406844T>C , CM000682.2:g.63406844T>C	GRCh38
NC_000020.10:g.62038197T>C , CM000682.1:g.62038197T>C	GRCh37
NC_000020.9:g.61508641T>C	NCBI36
NG_009004.1:g.70797A>G
NG_009004.2:g.70797A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2473A>G	ENSP00000516702.1:p.Ile825Val
ENST00000359125.7:c.2419A>G MANE Select	ENSP00000352035.2:p.Ile807Val
ENST00000637193.1:c.1816A>G	ENSP00000490734.1:p.Ile606Val
ENST00000344462.8:c.2326A>G	ENSP00000339611.4:p.Ile776Val
ENST00000357249.6:c.1987A>G	ENSP00000349789.3:p.Ile663Val
ENST00000359125.6:c.2419A>G	ENSP00000352035.2:p.Ile807Val
ENST00000360480.7:c.2335A>G	ENSP00000353668.3:p.Ile779Val
ENST00000370224.5:c.2241+202A>G	ENSP00000359244.2:n.2241+202A>G
ENST00000625514.2:c.2205+202A>G	ENSP00000486040.1:n.2205+202A>G
ENST00000626839.2:c.2365A>G	ENSP00000486706.1:p.Ile789Val
ENST00000629241.2:c.2133+202A>G	ENSP00000487142.1:n.2133+202A>G
ENST00000629676.2:c.1680-6001A>G	ENSP00000486194.1:n.1680-6001A>G
NM_004518.4:c.2335A>G	NP_004509.2:p.Ile779Val
NM_172106.1:c.2365A>G	NP_742104.1:p.Ile789Val
NM_172107.2:c.2419A>G	NP_742105.1:p.Ile807Val
NM_172108.3:c.2326A>G	NP_742106.1:p.Ile776Val
XM_006723787.1:c.2461A>G	XP_006723850.1:p.Ile821Val
XM_011528807.1:c.2527A>G	XP_011527109.1:p.Ile843Val
XM_011528808.1:c.2524A>G	XP_011527110.1:p.Ile842Val
XM_011528809.1:c.2497A>G	XP_011527111.1:p.Ile833Val
XM_011528810.1:c.2473A>G	XP_011527112.1:p.Ile825Val
XM_011528811.1:c.2443A>G	XP_011527113.1:p.Ile815Val
XM_011528812.1:c.2416A>G	XP_011527114.1:p.Ile806Val
XM_011528813.1:c.2401A>G	XP_011527115.1:p.Ile801Val
XM_011528814.1:c.2008A>G	XP_011527116.1:p.Ile670Val
NM_004518.5:c.2335A>G	NP_004509.2:p.Ile779Val
NM_172106.2:c.2365A>G	NP_742104.1:p.Ile789Val
NM_172107.3:c.2419A>G	NP_742105.1:p.Ile807Val
NM_172108.4:c.2326A>G	NP_742106.1:p.Ile776Val
XM_011528810.2:c.2473A>G	XP_011527112.1:p.Ile825Val
XM_011528811.2:c.2443A>G	XP_011527113.1:p.Ile815Val
XM_017027841.2:c.2470A>G	XP_016883330.1:p.Ile824Val
XM_017027842.2:c.2407A>G	XP_016883331.1:p.Ile803Val
XM_017027843.1:c.2404A>G	XP_016883332.1:p.Ile802Val
XM_017027844.2:c.2362A>G	XP_016883333.1:p.Ile788Val
XM_017027845.1:c.1435A>G	XP_016883334.1:p.Ile479Val
NM_004518.6:c.2335A>G	NP_004509.2:p.Ile779Val
NM_172106.3:c.2365A>G	NP_742104.1:p.Ile789Val
NM_172107.4:c.2419A>G MANE Select	NP_742105.1:p.Ile807Val
NM_172108.5:c.2326A>G	NP_742106.1:p.Ile776Val
NM_001382235.1:c.2473A>G	NP_001369164.1:p.Ile825Val