Canonical Allele Identifier: CA9958165

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2689297
• ClinVar RCV Id: RCV003487955 ; RCV003753299
• dbSNP Id: rs758838148
• ExAC: 20:62038580 T / C
• gnomAD v2: 20-62038580-T-C
• gnomAD v4: 20-63407227-T-C
• MyVariant Identifiers: chr20:g.62038580T>C (hg19) ; chr20:g.63407227T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407227T>C , CM000682.2:g.63407227T>C	GRCh38
NC_000020.10:g.62038580T>C , CM000682.1:g.62038580T>C	GRCh37
NC_000020.9:g.61509024T>C	NCBI36
NG_009004.1:g.70414A>G
NG_009004.2:g.70414A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2090A>G	ENSP00000516702.1:p.His697Arg
ENST00000359125.7:c.2036A>G MANE Select	ENSP00000352035.2:p.His679Arg
ENST00000637193.1:c.1433A>G	ENSP00000490734.1:p.His478Arg
ENST00000344462.8:c.1943A>G	ENSP00000339611.4:p.His648Arg
ENST00000357249.6:c.1604A>G	ENSP00000349789.3:p.His535Arg
ENST00000359125.6:c.2036A>G	ENSP00000352035.2:p.His679Arg
ENST00000360480.7:c.1952A>G	ENSP00000353668.3:p.His651Arg
ENST00000370224.5:c.2060A>G	ENSP00000359244.2:p.His687Arg
ENST00000625514.2:c.2024A>G	ENSP00000486040.1:p.His675Arg
ENST00000626839.2:c.1982A>G	ENSP00000486706.1:p.His661Arg
ENST00000629241.2:c.1952A>G	ENSP00000487142.1:p.His651Arg
ENST00000629676.2:c.1679+6223A>G	ENSP00000486194.1:n.1679+6223A>G
NM_004518.4:c.1952A>G	NP_004509.2:p.His651Arg
NM_172106.1:c.1982A>G	NP_742104.1:p.His661Arg
NM_172107.2:c.2036A>G	NP_742105.1:p.His679Arg
NM_172108.3:c.1943A>G	NP_742106.1:p.His648Arg
XM_006723787.1:c.2078A>G	XP_006723850.1:p.His693Arg
XM_011528807.1:c.2144A>G	XP_011527109.1:p.His715Arg
XM_011528808.1:c.2141A>G	XP_011527110.1:p.His714Arg
XM_011528809.1:c.2114A>G	XP_011527111.1:p.His705Arg
XM_011528810.1:c.2090A>G	XP_011527112.1:p.His697Arg
XM_011528811.1:c.2060A>G	XP_011527113.1:p.His687Arg
XM_011528812.1:c.2033A>G	XP_011527114.1:p.His678Arg
XM_011528813.1:c.2018A>G	XP_011527115.1:p.His673Arg
XM_011528814.1:c.1625A>G	XP_011527116.1:p.His542Arg
NM_004518.5:c.1952A>G	NP_004509.2:p.His651Arg
NM_172106.2:c.1982A>G	NP_742104.1:p.His661Arg
NM_172107.3:c.2036A>G	NP_742105.1:p.His679Arg
NM_172108.4:c.1943A>G	NP_742106.1:p.His648Arg
XM_011528810.2:c.2090A>G	XP_011527112.1:p.His697Arg
XM_011528811.2:c.2060A>G	XP_011527113.1:p.His687Arg
XM_017027841.2:c.2087A>G	XP_016883330.1:p.His696Arg
XM_017027842.2:c.2024A>G	XP_016883331.1:p.His675Arg
XM_017027843.1:c.2021A>G	XP_016883332.1:p.His674Arg
XM_017027844.2:c.1979A>G	XP_016883333.1:p.His660Arg
XM_017027845.1:c.1052A>G	XP_016883334.1:p.His351Arg
NM_004518.6:c.1952A>G	NP_004509.2:p.His651Arg
NM_172106.3:c.1982A>G	NP_742104.1:p.His661Arg
NM_172107.4:c.2036A>G MANE Select	NP_742105.1:p.His679Arg
NM_172108.5:c.1943A>G	NP_742106.1:p.His648Arg
NM_001382235.1:c.2090A>G	NP_001369164.1:p.His697Arg