Canonical Allele Identifier: CA409639264

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1295041609
• gnomAD v3: 20-63407285-C-T
• gnomAD v4: 20-63407285-C-T
• MyVariant Identifiers: chr20:g.62038638C>T (hg19) ; chr20:g.63407285C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407285C>T , CM000682.2:g.63407285C>T	GRCh38
NC_000020.10:g.62038638C>T , CM000682.1:g.62038638C>T	GRCh37
NC_000020.9:g.61509082C>T	NCBI36
NG_009004.1:g.70356G>A
NG_009004.2:g.70356G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2032G>A	ENSP00000516702.1:p.Gly678Arg
ENST00000359125.7:c.1978G>A MANE Select	ENSP00000352035.2:p.Gly660Arg
ENST00000637193.1:c.1375G>A	ENSP00000490734.1:p.Gly459Arg
ENST00000344462.8:c.1885G>A	ENSP00000339611.4:p.Gly629Arg
ENST00000357249.6:c.1546G>A	ENSP00000349789.3:p.Gly516Arg
ENST00000359125.6:c.1978G>A	ENSP00000352035.2:p.Gly660Arg
ENST00000360480.7:c.1894G>A	ENSP00000353668.3:p.Gly632Arg
ENST00000370224.5:c.2002G>A	ENSP00000359244.2:p.Gly668Arg
ENST00000625514.2:c.1966G>A	ENSP00000486040.1:p.Gly656Arg
ENST00000626839.2:c.1924G>A	ENSP00000486706.1:p.Gly642Arg
ENST00000629241.2:c.1894G>A	ENSP00000487142.1:p.Gly632Arg
ENST00000629676.2:c.1679+6165G>A	ENSP00000486194.1:n.1679+6165G>A
NM_004518.4:c.1894G>A	NP_004509.2:p.Gly632Arg
NM_172106.1:c.1924G>A	NP_742104.1:p.Gly642Arg
NM_172107.2:c.1978G>A	NP_742105.1:p.Gly660Arg
NM_172108.3:c.1885G>A	NP_742106.1:p.Gly629Arg
XM_006723787.1:c.2020G>A	XP_006723850.1:p.Gly674Arg
XM_011528807.1:c.2086G>A	XP_011527109.1:p.Gly696Arg
XM_011528808.1:c.2083G>A	XP_011527110.1:p.Gly695Arg
XM_011528809.1:c.2056G>A	XP_011527111.1:p.Gly686Arg
XM_011528810.1:c.2032G>A	XP_011527112.1:p.Gly678Arg
XM_011528811.1:c.2002G>A	XP_011527113.1:p.Gly668Arg
XM_011528812.1:c.1975G>A	XP_011527114.1:p.Gly659Arg
XM_011528813.1:c.1960G>A	XP_011527115.1:p.Gly654Arg
XM_011528814.1:c.1567G>A	XP_011527116.1:p.Gly523Arg
NM_004518.5:c.1894G>A	NP_004509.2:p.Gly632Arg
NM_172106.2:c.1924G>A	NP_742104.1:p.Gly642Arg
NM_172107.3:c.1978G>A	NP_742105.1:p.Gly660Arg
NM_172108.4:c.1885G>A	NP_742106.1:p.Gly629Arg
XM_011528810.2:c.2032G>A	XP_011527112.1:p.Gly678Arg
XM_011528811.2:c.2002G>A	XP_011527113.1:p.Gly668Arg
XM_017027841.2:c.2029G>A	XP_016883330.1:p.Gly677Arg
XM_017027842.2:c.1966G>A	XP_016883331.1:p.Gly656Arg
XM_017027843.1:c.1963G>A	XP_016883332.1:p.Gly655Arg
XM_017027844.2:c.1921G>A	XP_016883333.1:p.Gly641Arg
XM_017027845.1:c.994G>A	XP_016883334.1:p.Gly332Arg
NM_004518.6:c.1894G>A	NP_004509.2:p.Gly632Arg
NM_172106.3:c.1924G>A	NP_742104.1:p.Gly642Arg
NM_172107.4:c.1978G>A MANE Select	NP_742105.1:p.Gly660Arg
NM_172108.5:c.1885G>A	NP_742106.1:p.Gly629Arg
NM_001382235.1:c.2032G>A	NP_001369164.1:p.Gly678Arg