Canonical Allele Identifier: CA409638962

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407149-G-C
• MyVariant Identifiers: chr20:g.62038502G>C (hg19) ; chr20:g.63407149G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2168C>G	ENSP00000516702.1:p.Pro723Arg
ENST00000359125.7:c.2114C>G MANE Select	ENSP00000352035.2:p.Pro705Arg
ENST00000637193.1:c.1511C>G	ENSP00000490734.1:p.Pro504Arg
ENST00000344462.8:c.2021C>G	ENSP00000339611.4:p.Pro674Arg
ENST00000357249.6:c.1682C>G	ENSP00000349789.3:p.Pro561Arg
ENST00000359125.6:c.2114C>G	ENSP00000352035.2:p.Pro705Arg
ENST00000360480.7:c.2030C>G	ENSP00000353668.3:p.Pro677Arg
ENST00000370224.5:c.2138C>G	ENSP00000359244.2:p.Pro713Arg
ENST00000625514.2:c.2102C>G	ENSP00000486040.1:p.Pro701Arg
ENST00000626839.2:c.2060C>G	ENSP00000486706.1:p.Pro687Arg
ENST00000629241.2:c.2030C>G	ENSP00000487142.1:p.Pro677Arg
ENST00000629676.2:c.1679+6301C>G	ENSP00000486194.1:n.1679+6301C>G
NM_004518.4:c.2030C>G	NP_004509.2:p.Pro677Arg
NM_172106.1:c.2060C>G	NP_742104.1:p.Pro687Arg
NM_172107.2:c.2114C>G	NP_742105.1:p.Pro705Arg
NM_172108.3:c.2021C>G	NP_742106.1:p.Pro674Arg
XM_006723787.1:c.2156C>G	XP_006723850.1:p.Pro719Arg
XM_011528807.1:c.2222C>G	XP_011527109.1:p.Pro741Arg
XM_011528808.1:c.2219C>G	XP_011527110.1:p.Pro740Arg
XM_011528809.1:c.2192C>G	XP_011527111.1:p.Pro731Arg
XM_011528810.1:c.2168C>G	XP_011527112.1:p.Pro723Arg
XM_011528811.1:c.2138C>G	XP_011527113.1:p.Pro713Arg
XM_011528812.1:c.2111C>G	XP_011527114.1:p.Pro704Arg
XM_011528813.1:c.2096C>G	XP_011527115.1:p.Pro699Arg
XM_011528814.1:c.1703C>G	XP_011527116.1:p.Pro568Arg
NM_004518.5:c.2030C>G	NP_004509.2:p.Pro677Arg
NM_172106.2:c.2060C>G	NP_742104.1:p.Pro687Arg
NM_172107.3:c.2114C>G	NP_742105.1:p.Pro705Arg
NM_172108.4:c.2021C>G	NP_742106.1:p.Pro674Arg
XM_011528810.2:c.2168C>G	XP_011527112.1:p.Pro723Arg
XM_011528811.2:c.2138C>G	XP_011527113.1:p.Pro713Arg
XM_017027841.2:c.2165C>G	XP_016883330.1:p.Pro722Arg
XM_017027842.2:c.2102C>G	XP_016883331.1:p.Pro701Arg
XM_017027843.1:c.2099C>G	XP_016883332.1:p.Pro700Arg
XM_017027844.2:c.2057C>G	XP_016883333.1:p.Pro686Arg
XM_017027845.1:c.1130C>G	XP_016883334.1:p.Pro377Arg
NM_004518.6:c.2030C>G	NP_004509.2:p.Pro677Arg
NM_172106.3:c.2060C>G	NP_742104.1:p.Pro687Arg
NM_172107.4:c.2114C>G MANE Select	NP_742105.1:p.Pro705Arg
NM_172108.5:c.2021C>G	NP_742106.1:p.Pro674Arg
NM_001382235.1:c.2168C>G	NP_001369164.1:p.Pro723Arg