Canonical Allele Identifier: CA409638963

Gene: KCNQ2

Linked Data

• dbSNP Id: rs779609892
• gnomAD v4: 20-63407149-G-T
• COSMIC: COSM321140
• MyVariant Identifiers: chr20:g.62038502G>T (hg19) ; chr20:g.63407149G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407149G>T , CM000682.2:g.63407149G>T	GRCh38
NC_000020.10:g.62038502G>T , CM000682.1:g.62038502G>T	GRCh37
NC_000020.9:g.61508946G>T	NCBI36
NG_009004.1:g.70492C>A
NG_009004.2:g.70492C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2168C>A	ENSP00000516702.1:p.Pro723Gln
ENST00000359125.7:c.2114C>A MANE Select	ENSP00000352035.2:p.Pro705Gln
ENST00000637193.1:c.1511C>A	ENSP00000490734.1:p.Pro504Gln
ENST00000344462.8:c.2021C>A	ENSP00000339611.4:p.Pro674Gln
ENST00000357249.6:c.1682C>A	ENSP00000349789.3:p.Pro561Gln
ENST00000359125.6:c.2114C>A	ENSP00000352035.2:p.Pro705Gln
ENST00000360480.7:c.2030C>A	ENSP00000353668.3:p.Pro677Gln
ENST00000370224.5:c.2138C>A	ENSP00000359244.2:p.Pro713Gln
ENST00000625514.2:c.2102C>A	ENSP00000486040.1:p.Pro701Gln
ENST00000626839.2:c.2060C>A	ENSP00000486706.1:p.Pro687Gln
ENST00000629241.2:c.2030C>A	ENSP00000487142.1:p.Pro677Gln
ENST00000629676.2:c.1679+6301C>A	ENSP00000486194.1:n.1679+6301C>A
NM_004518.4:c.2030C>A	NP_004509.2:p.Pro677Gln
NM_172106.1:c.2060C>A	NP_742104.1:p.Pro687Gln
NM_172107.2:c.2114C>A	NP_742105.1:p.Pro705Gln
NM_172108.3:c.2021C>A	NP_742106.1:p.Pro674Gln
XM_006723787.1:c.2156C>A	XP_006723850.1:p.Pro719Gln
XM_011528807.1:c.2222C>A	XP_011527109.1:p.Pro741Gln
XM_011528808.1:c.2219C>A	XP_011527110.1:p.Pro740Gln
XM_011528809.1:c.2192C>A	XP_011527111.1:p.Pro731Gln
XM_011528810.1:c.2168C>A	XP_011527112.1:p.Pro723Gln
XM_011528811.1:c.2138C>A	XP_011527113.1:p.Pro713Gln
XM_011528812.1:c.2111C>A	XP_011527114.1:p.Pro704Gln
XM_011528813.1:c.2096C>A	XP_011527115.1:p.Pro699Gln
XM_011528814.1:c.1703C>A	XP_011527116.1:p.Pro568Gln
NM_004518.5:c.2030C>A	NP_004509.2:p.Pro677Gln
NM_172106.2:c.2060C>A	NP_742104.1:p.Pro687Gln
NM_172107.3:c.2114C>A	NP_742105.1:p.Pro705Gln
NM_172108.4:c.2021C>A	NP_742106.1:p.Pro674Gln
XM_011528810.2:c.2168C>A	XP_011527112.1:p.Pro723Gln
XM_011528811.2:c.2138C>A	XP_011527113.1:p.Pro713Gln
XM_017027841.2:c.2165C>A	XP_016883330.1:p.Pro722Gln
XM_017027842.2:c.2102C>A	XP_016883331.1:p.Pro701Gln
XM_017027843.1:c.2099C>A	XP_016883332.1:p.Pro700Gln
XM_017027844.2:c.2057C>A	XP_016883333.1:p.Pro686Gln
XM_017027845.1:c.1130C>A	XP_016883334.1:p.Pro377Gln
NM_004518.6:c.2030C>A	NP_004509.2:p.Pro677Gln
NM_172106.3:c.2060C>A	NP_742104.1:p.Pro687Gln
NM_172107.4:c.2114C>A MANE Select	NP_742105.1:p.Pro705Gln
NM_172108.5:c.2021C>A	NP_742106.1:p.Pro674Gln
NM_001382235.1:c.2168C>A	NP_001369164.1:p.Pro723Gln