Canonical Allele Identifier: CA511339407

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038558A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407205A>T , CM000682.2:g.63407205A>T	GRCh38
NC_000020.10:g.62038558A>T , CM000682.1:g.62038558A>T	GRCh37
NC_000020.9:g.61509002A>T	NCBI36
NG_009004.1:g.70436T>A
NG_009004.2:g.70436T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2112T>A	ENSP00000516702.1:p.Ile704=
ENST00000359125.7:c.2058T>A MANE Select	ENSP00000352035.2:p.Ile686=
ENST00000637193.1:c.1455T>A	ENSP00000490734.1:p.Ile485=
ENST00000344462.8:c.1965T>A	ENSP00000339611.4:p.Ile655=
ENST00000357249.6:c.1626T>A	ENSP00000349789.3:p.Ile542=
ENST00000359125.6:c.2058T>A	ENSP00000352035.2:p.Ile686=
ENST00000360480.7:c.1974T>A	ENSP00000353668.3:p.Ile658=
ENST00000370224.5:c.2082T>A	ENSP00000359244.2:p.Ile694=
ENST00000625514.2:c.2046T>A	ENSP00000486040.1:p.Ile682=
ENST00000626839.2:c.2004T>A	ENSP00000486706.1:p.Ile668=
ENST00000629241.2:c.1974T>A	ENSP00000487142.1:p.Ile658=
ENST00000629676.2:c.1679+6245T>A	ENSP00000486194.1:n.1679+6245T>A
NM_004518.4:c.1974T>A	NP_004509.2:p.Ile658=
NM_172106.1:c.2004T>A	NP_742104.1:p.Ile668=
NM_172107.2:c.2058T>A	NP_742105.1:p.Ile686=
NM_172108.3:c.1965T>A	NP_742106.1:p.Ile655=
XM_006723787.1:c.2100T>A	XP_006723850.1:p.Ile700=
XM_011528807.1:c.2166T>A	XP_011527109.1:p.Ile722=
XM_011528808.1:c.2163T>A	XP_011527110.1:p.Ile721=
XM_011528809.1:c.2136T>A	XP_011527111.1:p.Ile712=
XM_011528810.1:c.2112T>A	XP_011527112.1:p.Ile704=
XM_011528811.1:c.2082T>A	XP_011527113.1:p.Ile694=
XM_011528812.1:c.2055T>A	XP_011527114.1:p.Ile685=
XM_011528813.1:c.2040T>A	XP_011527115.1:p.Ile680=
XM_011528814.1:c.1647T>A	XP_011527116.1:p.Ile549=
NM_004518.5:c.1974T>A	NP_004509.2:p.Ile658=
NM_172106.2:c.2004T>A	NP_742104.1:p.Ile668=
NM_172107.3:c.2058T>A	NP_742105.1:p.Ile686=
NM_172108.4:c.1965T>A	NP_742106.1:p.Ile655=
XM_011528810.2:c.2112T>A	XP_011527112.1:p.Ile704=
XM_011528811.2:c.2082T>A	XP_011527113.1:p.Ile694=
XM_017027841.2:c.2109T>A	XP_016883330.1:p.Ile703=
XM_017027842.2:c.2046T>A	XP_016883331.1:p.Ile682=
XM_017027843.1:c.2043T>A	XP_016883332.1:p.Ile681=
XM_017027844.2:c.2001T>A	XP_016883333.1:p.Ile667=
XM_017027845.1:c.1074T>A	XP_016883334.1:p.Ile358=
NM_004518.6:c.1974T>A	NP_004509.2:p.Ile658=
NM_172106.3:c.2004T>A	NP_742104.1:p.Ile668=
NM_172107.4:c.2058T>A MANE Select	NP_742105.1:p.Ile686=
NM_172108.5:c.1965T>A	NP_742106.1:p.Ile655=
NM_001382235.1:c.2112T>A	NP_001369164.1:p.Ile704=