Canonical Allele Identifier: CA409639065

Gene: KCNQ2

Linked Data

• dbSNP Id: rs201701585
• gnomAD v3: 20-63407198-T-A
• gnomAD v4: 20-63407198-T-A
• MyVariant Identifiers: chr20:g.62038551T>A (hg19) ; chr20:g.63407198T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407198T>A , CM000682.2:g.63407198T>A	GRCh38
NC_000020.10:g.62038551T>A , CM000682.1:g.62038551T>A	GRCh37
NC_000020.9:g.61508995T>A	NCBI36
NG_009004.1:g.70443A>T
NG_009004.2:g.70443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2119A>T	ENSP00000516702.1:p.Ile707Phe
ENST00000359125.7:c.2065A>T MANE Select	ENSP00000352035.2:p.Ile689Phe
ENST00000637193.1:c.1462A>T	ENSP00000490734.1:p.Ile488Phe
ENST00000344462.8:c.1972A>T	ENSP00000339611.4:p.Ile658Phe
ENST00000357249.6:c.1633A>T	ENSP00000349789.3:p.Ile545Phe
ENST00000359125.6:c.2065A>T	ENSP00000352035.2:p.Ile689Phe
ENST00000360480.7:c.1981A>T	ENSP00000353668.3:p.Ile661Phe
ENST00000370224.5:c.2089A>T	ENSP00000359244.2:p.Ile697Phe
ENST00000625514.2:c.2053A>T	ENSP00000486040.1:p.Ile685Phe
ENST00000626839.2:c.2011A>T	ENSP00000486706.1:p.Ile671Phe
ENST00000629241.2:c.1981A>T	ENSP00000487142.1:p.Ile661Phe
ENST00000629676.2:c.1679+6252A>T	ENSP00000486194.1:n.1679+6252A>T
NM_004518.4:c.1981A>T	NP_004509.2:p.Ile661Phe
NM_172106.1:c.2011A>T	NP_742104.1:p.Ile671Phe
NM_172107.2:c.2065A>T	NP_742105.1:p.Ile689Phe
NM_172108.3:c.1972A>T	NP_742106.1:p.Ile658Phe
XM_006723787.1:c.2107A>T	XP_006723850.1:p.Ile703Phe
XM_011528807.1:c.2173A>T	XP_011527109.1:p.Ile725Phe
XM_011528808.1:c.2170A>T	XP_011527110.1:p.Ile724Phe
XM_011528809.1:c.2143A>T	XP_011527111.1:p.Ile715Phe
XM_011528810.1:c.2119A>T	XP_011527112.1:p.Ile707Phe
XM_011528811.1:c.2089A>T	XP_011527113.1:p.Ile697Phe
XM_011528812.1:c.2062A>T	XP_011527114.1:p.Ile688Phe
XM_011528813.1:c.2047A>T	XP_011527115.1:p.Ile683Phe
XM_011528814.1:c.1654A>T	XP_011527116.1:p.Ile552Phe
NM_004518.5:c.1981A>T	NP_004509.2:p.Ile661Phe
NM_172106.2:c.2011A>T	NP_742104.1:p.Ile671Phe
NM_172107.3:c.2065A>T	NP_742105.1:p.Ile689Phe
NM_172108.4:c.1972A>T	NP_742106.1:p.Ile658Phe
XM_011528810.2:c.2119A>T	XP_011527112.1:p.Ile707Phe
XM_011528811.2:c.2089A>T	XP_011527113.1:p.Ile697Phe
XM_017027841.2:c.2116A>T	XP_016883330.1:p.Ile706Phe
XM_017027842.2:c.2053A>T	XP_016883331.1:p.Ile685Phe
XM_017027843.1:c.2050A>T	XP_016883332.1:p.Ile684Phe
XM_017027844.2:c.2008A>T	XP_016883333.1:p.Ile670Phe
XM_017027845.1:c.1081A>T	XP_016883334.1:p.Ile361Phe
NM_004518.6:c.1981A>T	NP_004509.2:p.Ile661Phe
NM_172106.3:c.2011A>T	NP_742104.1:p.Ile671Phe
NM_172107.4:c.2065A>T MANE Select	NP_742105.1:p.Ile689Phe
NM_172108.5:c.1972A>T	NP_742106.1:p.Ile658Phe
NM_001382235.1:c.2119A>T	NP_001369164.1:p.Ile707Phe