Canonical Allele Identifier: CA315520

Gene: KCNQ2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407191C>T , CM000682.2:g.63407191C>T	GRCh38
NC_000020.10:g.62038544C>T , CM000682.1:g.62038544C>T	GRCh37
NC_000020.9:g.61508988C>T	NCBI36
NG_009004.1:g.70450G>A
NG_009004.2:g.70450G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2126G>A	ENSP00000516702.1:p.Arg709His
ENST00000359125.7:c.2072G>A MANE Select	ENSP00000352035.2:p.Arg691His
ENST00000637193.1:c.1469G>A	ENSP00000490734.1:p.Arg490His
ENST00000344462.8:c.1979G>A	ENSP00000339611.4:p.Arg660His
ENST00000357249.6:c.1640G>A	ENSP00000349789.3:p.Arg547His
ENST00000359125.6:c.2072G>A	ENSP00000352035.2:p.Arg691His
ENST00000360480.7:c.1988G>A	ENSP00000353668.3:p.Arg663His
ENST00000370224.5:c.2096G>A	ENSP00000359244.2:p.Arg699His
ENST00000625514.2:c.2060G>A	ENSP00000486040.1:p.Arg687His
ENST00000626839.2:c.2018G>A	ENSP00000486706.1:p.Arg673His
ENST00000629241.2:c.1988G>A	ENSP00000487142.1:p.Arg663His
ENST00000629676.2:c.1679+6259G>A	ENSP00000486194.1:n.1679+6259G>A
NM_004518.4:c.1988G>A	NP_004509.2:p.Arg663His
NM_172106.1:c.2018G>A	NP_742104.1:p.Arg673His
NM_172107.2:c.2072G>A	NP_742105.1:p.Arg691His
NM_172108.3:c.1979G>A	NP_742106.1:p.Arg660His
XM_006723787.1:c.2114G>A	XP_006723850.1:p.Arg705His
XM_011528807.1:c.2180G>A	XP_011527109.1:p.Arg727His
XM_011528808.1:c.2177G>A	XP_011527110.1:p.Arg726His
XM_011528809.1:c.2150G>A	XP_011527111.1:p.Arg717His
XM_011528810.1:c.2126G>A	XP_011527112.1:p.Arg709His
XM_011528811.1:c.2096G>A	XP_011527113.1:p.Arg699His
XM_011528812.1:c.2069G>A	XP_011527114.1:p.Arg690His
XM_011528813.1:c.2054G>A	XP_011527115.1:p.Arg685His
XM_011528814.1:c.1661G>A	XP_011527116.1:p.Arg554His
NM_004518.5:c.1988G>A	NP_004509.2:p.Arg663His
NM_172106.2:c.2018G>A	NP_742104.1:p.Arg673His
NM_172107.3:c.2072G>A	NP_742105.1:p.Arg691His
NM_172108.4:c.1979G>A	NP_742106.1:p.Arg660His
XM_011528810.2:c.2126G>A	XP_011527112.1:p.Arg709His
XM_011528811.2:c.2096G>A	XP_011527113.1:p.Arg699His
XM_017027841.2:c.2123G>A	XP_016883330.1:p.Arg708His
XM_017027842.2:c.2060G>A	XP_016883331.1:p.Arg687His
XM_017027843.1:c.2057G>A	XP_016883332.1:p.Arg686His
XM_017027844.2:c.2015G>A	XP_016883333.1:p.Arg672His
XM_017027845.1:c.1088G>A	XP_016883334.1:p.Arg363His
NM_004518.6:c.1988G>A	NP_004509.2:p.Arg663His
NM_172106.3:c.2018G>A	NP_742104.1:p.Arg673His
NM_172107.4:c.2072G>A MANE Select	NP_742105.1:p.Arg691His
NM_172108.5:c.1979G>A	NP_742106.1:p.Arg660His
NM_001382235.1:c.2126G>A	NP_001369164.1:p.Arg709His