Canonical Allele Identifier: CA409639177

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407247-G-T
• MyVariant Identifiers: chr20:g.62038600G>T (hg19) ; chr20:g.63407247G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407247G>T , CM000682.2:g.63407247G>T	GRCh38
NC_000020.10:g.62038600G>T , CM000682.1:g.62038600G>T	GRCh37
NC_000020.9:g.61509044G>T	NCBI36
NG_009004.1:g.70394C>A
NG_009004.2:g.70394C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2070C>A	ENSP00000516702.1:p.Ser690Arg
ENST00000359125.7:c.2016C>A MANE Select	ENSP00000352035.2:p.Ser672Arg
ENST00000637193.1:c.1413C>A	ENSP00000490734.1:p.Ser471Arg
ENST00000344462.8:c.1923C>A	ENSP00000339611.4:p.Ser641Arg
ENST00000357249.6:c.1584C>A	ENSP00000349789.3:p.Ser528Arg
ENST00000359125.6:c.2016C>A	ENSP00000352035.2:p.Ser672Arg
ENST00000360480.7:c.1932C>A	ENSP00000353668.3:p.Ser644Arg
ENST00000370224.5:c.2040C>A	ENSP00000359244.2:p.Ser680Arg
ENST00000625514.2:c.2004C>A	ENSP00000486040.1:p.Ser668Arg
ENST00000626839.2:c.1962C>A	ENSP00000486706.1:p.Ser654Arg
ENST00000629241.2:c.1932C>A	ENSP00000487142.1:p.Ser644Arg
ENST00000629676.2:c.1679+6203C>A	ENSP00000486194.1:n.1679+6203C>A
NM_004518.4:c.1932C>A	NP_004509.2:p.Ser644Arg
NM_172106.1:c.1962C>A	NP_742104.1:p.Ser654Arg
NM_172107.2:c.2016C>A	NP_742105.1:p.Ser672Arg
NM_172108.3:c.1923C>A	NP_742106.1:p.Ser641Arg
XM_006723787.1:c.2058C>A	XP_006723850.1:p.Ser686Arg
XM_011528807.1:c.2124C>A	XP_011527109.1:p.Ser708Arg
XM_011528808.1:c.2121C>A	XP_011527110.1:p.Ser707Arg
XM_011528809.1:c.2094C>A	XP_011527111.1:p.Ser698Arg
XM_011528810.1:c.2070C>A	XP_011527112.1:p.Ser690Arg
XM_011528811.1:c.2040C>A	XP_011527113.1:p.Ser680Arg
XM_011528812.1:c.2013C>A	XP_011527114.1:p.Ser671Arg
XM_011528813.1:c.1998C>A	XP_011527115.1:p.Ser666Arg
XM_011528814.1:c.1605C>A	XP_011527116.1:p.Ser535Arg
NM_004518.5:c.1932C>A	NP_004509.2:p.Ser644Arg
NM_172106.2:c.1962C>A	NP_742104.1:p.Ser654Arg
NM_172107.3:c.2016C>A	NP_742105.1:p.Ser672Arg
NM_172108.4:c.1923C>A	NP_742106.1:p.Ser641Arg
XM_011528810.2:c.2070C>A	XP_011527112.1:p.Ser690Arg
XM_011528811.2:c.2040C>A	XP_011527113.1:p.Ser680Arg
XM_017027841.2:c.2067C>A	XP_016883330.1:p.Ser689Arg
XM_017027842.2:c.2004C>A	XP_016883331.1:p.Ser668Arg
XM_017027843.1:c.2001C>A	XP_016883332.1:p.Ser667Arg
XM_017027844.2:c.1959C>A	XP_016883333.1:p.Ser653Arg
XM_017027845.1:c.1032C>A	XP_016883334.1:p.Ser344Arg
NM_004518.6:c.1932C>A	NP_004509.2:p.Ser644Arg
NM_172106.3:c.1962C>A	NP_742104.1:p.Ser654Arg
NM_172107.4:c.2016C>A MANE Select	NP_742105.1:p.Ser672Arg
NM_172108.5:c.1923C>A	NP_742106.1:p.Ser641Arg
NM_001382235.1:c.2070C>A	NP_001369164.1:p.Ser690Arg