Canonical Allele Identifier: CA409637166

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038197T>A (hg19) ; chr20:g.63406844T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406844T>A , CM000682.2:g.63406844T>A	GRCh38
NC_000020.10:g.62038197T>A , CM000682.1:g.62038197T>A	GRCh37
NC_000020.9:g.61508641T>A	NCBI36
NG_009004.1:g.70797A>T
NG_009004.2:g.70797A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2473A>T	ENSP00000516702.1:p.Ile825Phe
ENST00000359125.7:c.2419A>T MANE Select	ENSP00000352035.2:p.Ile807Phe
ENST00000637193.1:c.1816A>T	ENSP00000490734.1:p.Ile606Phe
ENST00000344462.8:c.2326A>T	ENSP00000339611.4:p.Ile776Phe
ENST00000357249.6:c.1987A>T	ENSP00000349789.3:p.Ile663Phe
ENST00000359125.6:c.2419A>T	ENSP00000352035.2:p.Ile807Phe
ENST00000360480.7:c.2335A>T	ENSP00000353668.3:p.Ile779Phe
ENST00000370224.5:c.2241+202A>T	ENSP00000359244.2:n.2241+202A>T
ENST00000625514.2:c.2205+202A>T	ENSP00000486040.1:n.2205+202A>T
ENST00000626839.2:c.2365A>T	ENSP00000486706.1:p.Ile789Phe
ENST00000629241.2:c.2133+202A>T	ENSP00000487142.1:n.2133+202A>T
ENST00000629676.2:c.1680-6001A>T	ENSP00000486194.1:n.1680-6001A>T
NM_004518.4:c.2335A>T	NP_004509.2:p.Ile779Phe
NM_172106.1:c.2365A>T	NP_742104.1:p.Ile789Phe
NM_172107.2:c.2419A>T	NP_742105.1:p.Ile807Phe
NM_172108.3:c.2326A>T	NP_742106.1:p.Ile776Phe
XM_006723787.1:c.2461A>T	XP_006723850.1:p.Ile821Phe
XM_011528807.1:c.2527A>T	XP_011527109.1:p.Ile843Phe
XM_011528808.1:c.2524A>T	XP_011527110.1:p.Ile842Phe
XM_011528809.1:c.2497A>T	XP_011527111.1:p.Ile833Phe
XM_011528810.1:c.2473A>T	XP_011527112.1:p.Ile825Phe
XM_011528811.1:c.2443A>T	XP_011527113.1:p.Ile815Phe
XM_011528812.1:c.2416A>T	XP_011527114.1:p.Ile806Phe
XM_011528813.1:c.2401A>T	XP_011527115.1:p.Ile801Phe
XM_011528814.1:c.2008A>T	XP_011527116.1:p.Ile670Phe
NM_004518.5:c.2335A>T	NP_004509.2:p.Ile779Phe
NM_172106.2:c.2365A>T	NP_742104.1:p.Ile789Phe
NM_172107.3:c.2419A>T	NP_742105.1:p.Ile807Phe
NM_172108.4:c.2326A>T	NP_742106.1:p.Ile776Phe
XM_011528810.2:c.2473A>T	XP_011527112.1:p.Ile825Phe
XM_011528811.2:c.2443A>T	XP_011527113.1:p.Ile815Phe
XM_017027841.2:c.2470A>T	XP_016883330.1:p.Ile824Phe
XM_017027842.2:c.2407A>T	XP_016883331.1:p.Ile803Phe
XM_017027843.1:c.2404A>T	XP_016883332.1:p.Ile802Phe
XM_017027844.2:c.2362A>T	XP_016883333.1:p.Ile788Phe
XM_017027845.1:c.1435A>T	XP_016883334.1:p.Ile479Phe
NM_004518.6:c.2335A>T	NP_004509.2:p.Ile779Phe
NM_172106.3:c.2365A>T	NP_742104.1:p.Ile789Phe
NM_172107.4:c.2419A>T MANE Select	NP_742105.1:p.Ile807Phe
NM_172108.5:c.2326A>T	NP_742106.1:p.Ile776Phe
NM_001382235.1:c.2473A>T	NP_001369164.1:p.Ile825Phe