Canonical Allele Identifier: CA409639178

Gene: KCNQ2

Linked Data

• dbSNP Id: rs2079975434
• gnomAD v4: 20-63407248-C-T
• COSMIC: COSM5456837 ; COSM5456838 ; COSM5456839
• MyVariant Identifiers: chr20:g.62038601C>T (hg19) ; chr20:g.63407248C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2069G>A	ENSP00000516702.1:p.Ser690Asn
ENST00000359125.7:c.2015G>A MANE Select	ENSP00000352035.2:p.Ser672Asn
ENST00000637193.1:c.1412G>A	ENSP00000490734.1:p.Ser471Asn
ENST00000344462.8:c.1922G>A	ENSP00000339611.4:p.Ser641Asn
ENST00000357249.6:c.1583G>A	ENSP00000349789.3:p.Ser528Asn
ENST00000359125.6:c.2015G>A	ENSP00000352035.2:p.Ser672Asn
ENST00000360480.7:c.1931G>A	ENSP00000353668.3:p.Ser644Asn
ENST00000370224.5:c.2039G>A	ENSP00000359244.2:p.Ser680Asn
ENST00000625514.2:c.2003G>A	ENSP00000486040.1:p.Ser668Asn
ENST00000626839.2:c.1961G>A	ENSP00000486706.1:p.Ser654Asn
ENST00000629241.2:c.1931G>A	ENSP00000487142.1:p.Ser644Asn
ENST00000629676.2:c.1679+6202G>A	ENSP00000486194.1:n.1679+6202G>A
NM_004518.4:c.1931G>A	NP_004509.2:p.Ser644Asn
NM_172106.1:c.1961G>A	NP_742104.1:p.Ser654Asn
NM_172107.2:c.2015G>A	NP_742105.1:p.Ser672Asn
NM_172108.3:c.1922G>A	NP_742106.1:p.Ser641Asn
XM_006723787.1:c.2057G>A	XP_006723850.1:p.Ser686Asn
XM_011528807.1:c.2123G>A	XP_011527109.1:p.Ser708Asn
XM_011528808.1:c.2120G>A	XP_011527110.1:p.Ser707Asn
XM_011528809.1:c.2093G>A	XP_011527111.1:p.Ser698Asn
XM_011528810.1:c.2069G>A	XP_011527112.1:p.Ser690Asn
XM_011528811.1:c.2039G>A	XP_011527113.1:p.Ser680Asn
XM_011528812.1:c.2012G>A	XP_011527114.1:p.Ser671Asn
XM_011528813.1:c.1997G>A	XP_011527115.1:p.Ser666Asn
XM_011528814.1:c.1604G>A	XP_011527116.1:p.Ser535Asn
NM_004518.5:c.1931G>A	NP_004509.2:p.Ser644Asn
NM_172106.2:c.1961G>A	NP_742104.1:p.Ser654Asn
NM_172107.3:c.2015G>A	NP_742105.1:p.Ser672Asn
NM_172108.4:c.1922G>A	NP_742106.1:p.Ser641Asn
XM_011528810.2:c.2069G>A	XP_011527112.1:p.Ser690Asn
XM_011528811.2:c.2039G>A	XP_011527113.1:p.Ser680Asn
XM_017027841.2:c.2066G>A	XP_016883330.1:p.Ser689Asn
XM_017027842.2:c.2003G>A	XP_016883331.1:p.Ser668Asn
XM_017027843.1:c.2000G>A	XP_016883332.1:p.Ser667Asn
XM_017027844.2:c.1958G>A	XP_016883333.1:p.Ser653Asn
XM_017027845.1:c.1031G>A	XP_016883334.1:p.Ser344Asn
NM_004518.6:c.1931G>A	NP_004509.2:p.Ser644Asn
NM_172106.3:c.1961G>A	NP_742104.1:p.Ser654Asn
NM_172107.4:c.2015G>A MANE Select	NP_742105.1:p.Ser672Asn
NM_172108.5:c.1922G>A	NP_742106.1:p.Ser641Asn
NM_001382235.1:c.2069G>A	NP_001369164.1:p.Ser690Asn