Canonical Allele Identifier: CA409639146

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1326189284
• gnomAD v2: 20-62038586-C-T
• gnomAD v3: 20-63407233-C-T
• gnomAD v4: 20-63407233-C-T
• COSMIC: COSM3548987 ; COSM3548988 ; COSM3548989
• MyVariant Identifiers: chr20:g.62038586C>T (hg19) ; chr20:g.63407233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407233C>T , CM000682.2:g.63407233C>T	GRCh38
NC_000020.10:g.62038586C>T , CM000682.1:g.62038586C>T	GRCh37
NC_000020.9:g.61509030C>T	NCBI36
NG_009004.1:g.70408G>A
NG_009004.2:g.70408G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2084G>A	ENSP00000516702.1:p.Arg695Gln
ENST00000359125.7:c.2030G>A MANE Select	ENSP00000352035.2:p.Arg677Gln
ENST00000637193.1:c.1427G>A	ENSP00000490734.1:p.Arg476Gln
ENST00000344462.8:c.1937G>A	ENSP00000339611.4:p.Arg646Gln
ENST00000357249.6:c.1598G>A	ENSP00000349789.3:p.Arg533Gln
ENST00000359125.6:c.2030G>A	ENSP00000352035.2:p.Arg677Gln
ENST00000360480.7:c.1946G>A	ENSP00000353668.3:p.Arg649Gln
ENST00000370224.5:c.2054G>A	ENSP00000359244.2:p.Arg685Gln
ENST00000625514.2:c.2018G>A	ENSP00000486040.1:p.Arg673Gln
ENST00000626839.2:c.1976G>A	ENSP00000486706.1:p.Arg659Gln
ENST00000629241.2:c.1946G>A	ENSP00000487142.1:p.Arg649Gln
ENST00000629676.2:c.1679+6217G>A	ENSP00000486194.1:n.1679+6217G>A
NM_004518.4:c.1946G>A	NP_004509.2:p.Arg649Gln
NM_172106.1:c.1976G>A	NP_742104.1:p.Arg659Gln
NM_172107.2:c.2030G>A	NP_742105.1:p.Arg677Gln
NM_172108.3:c.1937G>A	NP_742106.1:p.Arg646Gln
XM_006723787.1:c.2072G>A	XP_006723850.1:p.Arg691Gln
XM_011528807.1:c.2138G>A	XP_011527109.1:p.Arg713Gln
XM_011528808.1:c.2135G>A	XP_011527110.1:p.Arg712Gln
XM_011528809.1:c.2108G>A	XP_011527111.1:p.Arg703Gln
XM_011528810.1:c.2084G>A	XP_011527112.1:p.Arg695Gln
XM_011528811.1:c.2054G>A	XP_011527113.1:p.Arg685Gln
XM_011528812.1:c.2027G>A	XP_011527114.1:p.Arg676Gln
XM_011528813.1:c.2012G>A	XP_011527115.1:p.Arg671Gln
XM_011528814.1:c.1619G>A	XP_011527116.1:p.Arg540Gln
NM_004518.5:c.1946G>A	NP_004509.2:p.Arg649Gln
NM_172106.2:c.1976G>A	NP_742104.1:p.Arg659Gln
NM_172107.3:c.2030G>A	NP_742105.1:p.Arg677Gln
NM_172108.4:c.1937G>A	NP_742106.1:p.Arg646Gln
XM_011528810.2:c.2084G>A	XP_011527112.1:p.Arg695Gln
XM_011528811.2:c.2054G>A	XP_011527113.1:p.Arg685Gln
XM_017027841.2:c.2081G>A	XP_016883330.1:p.Arg694Gln
XM_017027842.2:c.2018G>A	XP_016883331.1:p.Arg673Gln
XM_017027843.1:c.2015G>A	XP_016883332.1:p.Arg672Gln
XM_017027844.2:c.1973G>A	XP_016883333.1:p.Arg658Gln
XM_017027845.1:c.1046G>A	XP_016883334.1:p.Arg349Gln
NM_004518.6:c.1946G>A	NP_004509.2:p.Arg649Gln
NM_172106.3:c.1976G>A	NP_742104.1:p.Arg659Gln
NM_172107.4:c.2030G>A MANE Select	NP_742105.1:p.Arg677Gln
NM_172108.5:c.1937G>A	NP_742106.1:p.Arg646Gln
NM_001382235.1:c.2084G>A	NP_001369164.1:p.Arg695Gln