Canonical Allele Identifier: CA9958194

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 501056
• ClinVar RCV Id: RCV000596733 ; RCV000794040
• dbSNP Id: rs765583552
• ExAC: 20:62038676 C / T
• gnomAD v2: 20-62038676-C-T
• gnomAD v4: 20-63407323-C-T
• COSMIC: COSM245175
• MyVariant Identifiers: chr20:g.62038676C>T (hg19) ; chr20:g.63407323C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407323C>T , CM000682.2:g.63407323C>T	GRCh38
NC_000020.10:g.62038676C>T , CM000682.1:g.62038676C>T	GRCh37
NC_000020.9:g.61509120C>T	NCBI36
NG_009004.1:g.70318G>A
NG_009004.2:g.70318G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1994G>A	ENSP00000516702.1:p.Arg665Gln
ENST00000359125.7:c.1940G>A MANE Select	ENSP00000352035.2:p.Arg647Gln
ENST00000637193.1:c.1337G>A	ENSP00000490734.1:p.Arg446Gln
ENST00000637338.1:n.97G>A
ENST00000344462.8:c.1847G>A	ENSP00000339611.4:p.Arg616Gln
ENST00000357249.6:c.1508G>A	ENSP00000349789.3:p.Arg503Gln
ENST00000359125.6:c.1940G>A	ENSP00000352035.2:p.Arg647Gln
ENST00000360480.7:c.1856G>A	ENSP00000353668.3:p.Arg619Gln
ENST00000370224.5:c.1964G>A	ENSP00000359244.2:p.Arg655Gln
ENST00000625514.2:c.1928G>A	ENSP00000486040.1:p.Arg643Gln
ENST00000626839.2:c.1886G>A	ENSP00000486706.1:p.Arg629Gln
ENST00000629241.2:c.1856G>A	ENSP00000487142.1:p.Arg619Gln
ENST00000629676.2:c.1679+6127G>A	ENSP00000486194.1:n.1679+6127G>A
NM_004518.4:c.1856G>A	NP_004509.2:p.Arg619Gln
NM_172106.1:c.1886G>A	NP_742104.1:p.Arg629Gln
NM_172107.2:c.1940G>A	NP_742105.1:p.Arg647Gln
NM_172108.3:c.1847G>A	NP_742106.1:p.Arg616Gln
XM_006723787.1:c.1982G>A	XP_006723850.1:p.Arg661Gln
XM_011528807.1:c.2048G>A	XP_011527109.1:p.Arg683Gln
XM_011528808.1:c.2045G>A	XP_011527110.1:p.Arg682Gln
XM_011528809.1:c.2018G>A	XP_011527111.1:p.Arg673Gln
XM_011528810.1:c.1994G>A	XP_011527112.1:p.Arg665Gln
XM_011528811.1:c.1964G>A	XP_011527113.1:p.Arg655Gln
XM_011528812.1:c.1937G>A	XP_011527114.1:p.Arg646Gln
XM_011528813.1:c.1922G>A	XP_011527115.1:p.Arg641Gln
XM_011528814.1:c.1529G>A	XP_011527116.1:p.Arg510Gln
NM_004518.5:c.1856G>A	NP_004509.2:p.Arg619Gln
NM_172106.2:c.1886G>A	NP_742104.1:p.Arg629Gln
NM_172107.3:c.1940G>A	NP_742105.1:p.Arg647Gln
NM_172108.4:c.1847G>A	NP_742106.1:p.Arg616Gln
XM_011528810.2:c.1994G>A	XP_011527112.1:p.Arg665Gln
XM_011528811.2:c.1964G>A	XP_011527113.1:p.Arg655Gln
XM_017027841.2:c.1991G>A	XP_016883330.1:p.Arg664Gln
XM_017027842.2:c.1928G>A	XP_016883331.1:p.Arg643Gln
XM_017027843.1:c.1925G>A	XP_016883332.1:p.Arg642Gln
XM_017027844.2:c.1883G>A	XP_016883333.1:p.Arg628Gln
XM_017027845.1:c.956G>A	XP_016883334.1:p.Arg319Gln
NM_004518.6:c.1856G>A	NP_004509.2:p.Arg619Gln
NM_172106.3:c.1886G>A	NP_742104.1:p.Arg629Gln
NM_172107.4:c.1940G>A MANE Select	NP_742105.1:p.Arg647Gln
NM_172108.5:c.1847G>A	NP_742106.1:p.Arg616Gln
NM_001382235.1:c.1994G>A	NP_001369164.1:p.Arg665Gln