Canonical Allele Identifier: CA9958167

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 3003086
• ClinVar RCV Id: RCV003867701
• dbSNP Id: rs371851085
• ExAC: 20:62038587 G / T
• gnomAD v2: 20-62038587-G-T
• gnomAD v4: 20-63407234-G-T
• MyVariant Identifiers: chr20:g.62038587G>T (hg19) ; chr20:g.63407234G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407234G>T , CM000682.2:g.63407234G>T	GRCh38
NC_000020.10:g.62038587G>T , CM000682.1:g.62038587G>T	GRCh37
NC_000020.9:g.61509031G>T	NCBI36
NG_009004.1:g.70407C>A
NG_009004.2:g.70407C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.2083C>A	ENSP00000516702.1:p.Arg695=
ENST00000359125.7:c.2029C>A MANE Select	ENSP00000352035.2:p.Arg677=
ENST00000637193.1:c.1426C>A	ENSP00000490734.1:p.Arg476=
ENST00000344462.8:c.1936C>A	ENSP00000339611.4:p.Arg646=
ENST00000357249.6:c.1597C>A	ENSP00000349789.3:p.Arg533=
ENST00000359125.6:c.2029C>A	ENSP00000352035.2:p.Arg677=
ENST00000360480.7:c.1945C>A	ENSP00000353668.3:p.Arg649=
ENST00000370224.5:c.2053C>A	ENSP00000359244.2:p.Arg685=
ENST00000625514.2:c.2017C>A	ENSP00000486040.1:p.Arg673=
ENST00000626839.2:c.1975C>A	ENSP00000486706.1:p.Arg659=
ENST00000629241.2:c.1945C>A	ENSP00000487142.1:p.Arg649=
ENST00000629676.2:c.1679+6216C>A	ENSP00000486194.1:n.1679+6216C>A
NM_004518.4:c.1945C>A	NP_004509.2:p.Arg649=
NM_172106.1:c.1975C>A	NP_742104.1:p.Arg659=
NM_172107.2:c.2029C>A	NP_742105.1:p.Arg677=
NM_172108.3:c.1936C>A	NP_742106.1:p.Arg646=
XM_006723787.1:c.2071C>A	XP_006723850.1:p.Arg691=
XM_011528807.1:c.2137C>A	XP_011527109.1:p.Arg713=
XM_011528808.1:c.2134C>A	XP_011527110.1:p.Arg712=
XM_011528809.1:c.2107C>A	XP_011527111.1:p.Arg703=
XM_011528810.1:c.2083C>A	XP_011527112.1:p.Arg695=
XM_011528811.1:c.2053C>A	XP_011527113.1:p.Arg685=
XM_011528812.1:c.2026C>A	XP_011527114.1:p.Arg676=
XM_011528813.1:c.2011C>A	XP_011527115.1:p.Arg671=
XM_011528814.1:c.1618C>A	XP_011527116.1:p.Arg540=
NM_004518.5:c.1945C>A	NP_004509.2:p.Arg649=
NM_172106.2:c.1975C>A	NP_742104.1:p.Arg659=
NM_172107.3:c.2029C>A	NP_742105.1:p.Arg677=
NM_172108.4:c.1936C>A	NP_742106.1:p.Arg646=
XM_011528810.2:c.2083C>A	XP_011527112.1:p.Arg695=
XM_011528811.2:c.2053C>A	XP_011527113.1:p.Arg685=
XM_017027841.2:c.2080C>A	XP_016883330.1:p.Arg694=
XM_017027842.2:c.2017C>A	XP_016883331.1:p.Arg673=
XM_017027843.1:c.2014C>A	XP_016883332.1:p.Arg672=
XM_017027844.2:c.1972C>A	XP_016883333.1:p.Arg658=
XM_017027845.1:c.1045C>A	XP_016883334.1:p.Arg349=
NM_004518.6:c.1945C>A	NP_004509.2:p.Arg649=
NM_172106.3:c.1975C>A	NP_742104.1:p.Arg659=
NM_172107.4:c.2029C>A MANE Select	NP_742105.1:p.Arg677=
NM_172108.5:c.1936C>A	NP_742106.1:p.Arg646=
NM_001382235.1:c.2083C>A	NP_001369164.1:p.Arg695=