Canonical Allele Identifier: CA511339255

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406899-G-T
• MyVariant Identifiers: chr20:g.62038252G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406899G>T , CM000682.2:g.63406899G>T	GRCh38
NC_000020.10:g.62038252G>T , CM000682.1:g.62038252G>T	GRCh37
NC_000020.9:g.61508696G>T	NCBI36
NG_009004.1:g.70742C>A
NG_009004.2:g.70742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2418C>A	ENSP00000516702.1:p.Ile806=
ENST00000359125.7:c.2364C>A MANE Select	ENSP00000352035.2:p.Ile788=
ENST00000637193.1:c.1761C>A	ENSP00000490734.1:p.Ile587=
ENST00000344462.8:c.2271C>A	ENSP00000339611.4:p.Ile757=
ENST00000357249.6:c.1932C>A	ENSP00000349789.3:p.Ile644=
ENST00000359125.6:c.2364C>A	ENSP00000352035.2:p.Ile788=
ENST00000360480.7:c.2280C>A	ENSP00000353668.3:p.Ile760=
ENST00000370224.5:c.2241+147C>A	ENSP00000359244.2:n.2241+147C>A
ENST00000625514.2:c.2205+147C>A	ENSP00000486040.1:n.2205+147C>A
ENST00000626839.2:c.2310C>A	ENSP00000486706.1:p.Ile770=
ENST00000629241.2:c.2133+147C>A	ENSP00000487142.1:n.2133+147C>A
ENST00000629676.2:c.1680-6056C>A	ENSP00000486194.1:n.1680-6056C>A
NM_004518.4:c.2280C>A	NP_004509.2:p.Ile760=
NM_172106.1:c.2310C>A	NP_742104.1:p.Ile770=
NM_172107.2:c.2364C>A	NP_742105.1:p.Ile788=
NM_172108.3:c.2271C>A	NP_742106.1:p.Ile757=
XM_006723787.1:c.2406C>A	XP_006723850.1:p.Ile802=
XM_011528807.1:c.2472C>A	XP_011527109.1:p.Ile824=
XM_011528808.1:c.2469C>A	XP_011527110.1:p.Ile823=
XM_011528809.1:c.2442C>A	XP_011527111.1:p.Ile814=
XM_011528810.1:c.2418C>A	XP_011527112.1:p.Ile806=
XM_011528811.1:c.2388C>A	XP_011527113.1:p.Ile796=
XM_011528812.1:c.2361C>A	XP_011527114.1:p.Ile787=
XM_011528813.1:c.2346C>A	XP_011527115.1:p.Ile782=
XM_011528814.1:c.1953C>A	XP_011527116.1:p.Ile651=
NM_004518.5:c.2280C>A	NP_004509.2:p.Ile760=
NM_172106.2:c.2310C>A	NP_742104.1:p.Ile770=
NM_172107.3:c.2364C>A	NP_742105.1:p.Ile788=
NM_172108.4:c.2271C>A	NP_742106.1:p.Ile757=
XM_011528810.2:c.2418C>A	XP_011527112.1:p.Ile806=
XM_011528811.2:c.2388C>A	XP_011527113.1:p.Ile796=
XM_017027841.2:c.2415C>A	XP_016883330.1:p.Ile805=
XM_017027842.2:c.2352C>A	XP_016883331.1:p.Ile784=
XM_017027843.1:c.2349C>A	XP_016883332.1:p.Ile783=
XM_017027844.2:c.2307C>A	XP_016883333.1:p.Ile769=
XM_017027845.1:c.1380C>A	XP_016883334.1:p.Ile460=
NM_004518.6:c.2280C>A	NP_004509.2:p.Ile760=
NM_172106.3:c.2310C>A	NP_742104.1:p.Ile770=
NM_172107.4:c.2364C>A MANE Select	NP_742105.1:p.Ile788=
NM_172108.5:c.2271C>A	NP_742106.1:p.Ile757=
NM_001382235.1:c.2418C>A	NP_001369164.1:p.Ile806=