Canonical Allele Identifier: CA409639180

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407248-C-A
• MyVariant Identifiers: chr20:g.62038601C>A (hg19) ; chr20:g.63407248C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407248C>A , CM000682.2:g.63407248C>A	GRCh38
NC_000020.10:g.62038601C>A , CM000682.1:g.62038601C>A	GRCh37
NC_000020.9:g.61509045C>A	NCBI36
NG_009004.1:g.70393G>T
NG_009004.2:g.70393G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2069G>T	ENSP00000516702.1:p.Ser690Ile
ENST00000359125.7:c.2015G>T MANE Select	ENSP00000352035.2:p.Ser672Ile
ENST00000637193.1:c.1412G>T	ENSP00000490734.1:p.Ser471Ile
ENST00000344462.8:c.1922G>T	ENSP00000339611.4:p.Ser641Ile
ENST00000357249.6:c.1583G>T	ENSP00000349789.3:p.Ser528Ile
ENST00000359125.6:c.2015G>T	ENSP00000352035.2:p.Ser672Ile
ENST00000360480.7:c.1931G>T	ENSP00000353668.3:p.Ser644Ile
ENST00000370224.5:c.2039G>T	ENSP00000359244.2:p.Ser680Ile
ENST00000625514.2:c.2003G>T	ENSP00000486040.1:p.Ser668Ile
ENST00000626839.2:c.1961G>T	ENSP00000486706.1:p.Ser654Ile
ENST00000629241.2:c.1931G>T	ENSP00000487142.1:p.Ser644Ile
ENST00000629676.2:c.1679+6202G>T	ENSP00000486194.1:n.1679+6202G>T
NM_004518.4:c.1931G>T	NP_004509.2:p.Ser644Ile
NM_172106.1:c.1961G>T	NP_742104.1:p.Ser654Ile
NM_172107.2:c.2015G>T	NP_742105.1:p.Ser672Ile
NM_172108.3:c.1922G>T	NP_742106.1:p.Ser641Ile
XM_006723787.1:c.2057G>T	XP_006723850.1:p.Ser686Ile
XM_011528807.1:c.2123G>T	XP_011527109.1:p.Ser708Ile
XM_011528808.1:c.2120G>T	XP_011527110.1:p.Ser707Ile
XM_011528809.1:c.2093G>T	XP_011527111.1:p.Ser698Ile
XM_011528810.1:c.2069G>T	XP_011527112.1:p.Ser690Ile
XM_011528811.1:c.2039G>T	XP_011527113.1:p.Ser680Ile
XM_011528812.1:c.2012G>T	XP_011527114.1:p.Ser671Ile
XM_011528813.1:c.1997G>T	XP_011527115.1:p.Ser666Ile
XM_011528814.1:c.1604G>T	XP_011527116.1:p.Ser535Ile
NM_004518.5:c.1931G>T	NP_004509.2:p.Ser644Ile
NM_172106.2:c.1961G>T	NP_742104.1:p.Ser654Ile
NM_172107.3:c.2015G>T	NP_742105.1:p.Ser672Ile
NM_172108.4:c.1922G>T	NP_742106.1:p.Ser641Ile
XM_011528810.2:c.2069G>T	XP_011527112.1:p.Ser690Ile
XM_011528811.2:c.2039G>T	XP_011527113.1:p.Ser680Ile
XM_017027841.2:c.2066G>T	XP_016883330.1:p.Ser689Ile
XM_017027842.2:c.2003G>T	XP_016883331.1:p.Ser668Ile
XM_017027843.1:c.2000G>T	XP_016883332.1:p.Ser667Ile
XM_017027844.2:c.1958G>T	XP_016883333.1:p.Ser653Ile
XM_017027845.1:c.1031G>T	XP_016883334.1:p.Ser344Ile
NM_004518.6:c.1931G>T	NP_004509.2:p.Ser644Ile
NM_172106.3:c.1961G>T	NP_742104.1:p.Ser654Ile
NM_172107.4:c.2015G>T MANE Select	NP_742105.1:p.Ser672Ile
NM_172108.5:c.1922G>T	NP_742106.1:p.Ser641Ile
NM_001382235.1:c.2069G>T	NP_001369164.1:p.Ser690Ile