Canonical Allele Identifier: CA9958131

Gene: KCNQ2

Linked Data

• dbSNP Id: rs779515560
• ExAC: 20:62038426 G / A
• gnomAD v2: 20-62038426-G-A
• gnomAD v4: 20-63407073-G-A
• MyVariant Identifiers: chr20:g.62038426G>A (hg19) ; chr20:g.63407073G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407073G>A , CM000682.2:g.63407073G>A	GRCh38
NC_000020.10:g.62038426G>A , CM000682.1:g.62038426G>A	GRCh37
NC_000020.9:g.61508870G>A	NCBI36
NG_009004.1:g.70568C>T
NG_009004.2:g.70568C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2244C>T	ENSP00000516702.1:p.Thr748=
ENST00000359125.7:c.2190C>T MANE Select	ENSP00000352035.2:p.Thr730=
ENST00000637193.1:c.1587C>T	ENSP00000490734.1:p.Thr529=
ENST00000344462.8:c.2097C>T	ENSP00000339611.4:p.Thr699=
ENST00000357249.6:c.1758C>T	ENSP00000349789.3:p.Thr586=
ENST00000359125.6:c.2190C>T	ENSP00000352035.2:p.Thr730=
ENST00000360480.7:c.2106C>T	ENSP00000353668.3:p.Thr702=
ENST00000370224.5:c.2214C>T	ENSP00000359244.2:p.Thr738=
ENST00000625514.2:c.2178C>T	ENSP00000486040.1:p.Thr726=
ENST00000626839.2:c.2136C>T	ENSP00000486706.1:p.Thr712=
ENST00000629241.2:c.2106C>T	ENSP00000487142.1:p.Thr702=
ENST00000629676.2:c.1680-6230C>T	ENSP00000486194.1:n.1680-6230C>T
NM_004518.4:c.2106C>T	NP_004509.2:p.Thr702=
NM_172106.1:c.2136C>T	NP_742104.1:p.Thr712=
NM_172107.2:c.2190C>T	NP_742105.1:p.Thr730=
NM_172108.3:c.2097C>T	NP_742106.1:p.Thr699=
XM_006723787.1:c.2232C>T	XP_006723850.1:p.Thr744=
XM_011528807.1:c.2298C>T	XP_011527109.1:p.Thr766=
XM_011528808.1:c.2295C>T	XP_011527110.1:p.Thr765=
XM_011528809.1:c.2268C>T	XP_011527111.1:p.Thr756=
XM_011528810.1:c.2244C>T	XP_011527112.1:p.Thr748=
XM_011528811.1:c.2214C>T	XP_011527113.1:p.Thr738=
XM_011528812.1:c.2187C>T	XP_011527114.1:p.Thr729=
XM_011528813.1:c.2172C>T	XP_011527115.1:p.Thr724=
XM_011528814.1:c.1779C>T	XP_011527116.1:p.Thr593=
NM_004518.5:c.2106C>T	NP_004509.2:p.Thr702=
NM_172106.2:c.2136C>T	NP_742104.1:p.Thr712=
NM_172107.3:c.2190C>T	NP_742105.1:p.Thr730=
NM_172108.4:c.2097C>T	NP_742106.1:p.Thr699=
XM_011528810.2:c.2244C>T	XP_011527112.1:p.Thr748=
XM_011528811.2:c.2214C>T	XP_011527113.1:p.Thr738=
XM_017027841.2:c.2241C>T	XP_016883330.1:p.Thr747=
XM_017027842.2:c.2178C>T	XP_016883331.1:p.Thr726=
XM_017027843.1:c.2175C>T	XP_016883332.1:p.Thr725=
XM_017027844.2:c.2133C>T	XP_016883333.1:p.Thr711=
XM_017027845.1:c.1206C>T	XP_016883334.1:p.Thr402=
NM_004518.6:c.2106C>T	NP_004509.2:p.Thr702=
NM_172106.3:c.2136C>T	NP_742104.1:p.Thr712=
NM_172107.4:c.2190C>T MANE Select	NP_742105.1:p.Thr730=
NM_172108.5:c.2097C>T	NP_742106.1:p.Thr699=
NM_001382235.1:c.2244C>T	NP_001369164.1:p.Thr748=