Canonical Allele Identifier: CA511340006

Gene: KCNQ2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63413478G>A , CM000682.2:g.63413478G>A	GRCh38
NC_000020.10:g.62044831G>A , CM000682.1:g.62044831G>A	GRCh37
NC_000020.9:g.61515275G>A	NCBI36
NG_009004.1:g.64163C>T
NG_009004.2:g.64163C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1681C>T	ENSP00000516702.1:p.Leu561=
ENST00000359125.7:c.1735C>T MANE Select	ENSP00000352035.2:p.Leu579=
ENST00000637193.1:c.1132C>T	ENSP00000490734.1:p.Leu378=
ENST00000344462.8:c.1642C>T	ENSP00000339611.4:p.Leu548=
ENST00000357249.6:c.1303C>T	ENSP00000349789.3:p.Leu435=
ENST00000359125.6:c.1735C>T	ENSP00000352035.2:p.Leu579=
ENST00000360480.7:c.1651C>T	ENSP00000353668.3:p.Leu551=
ENST00000370224.5:c.1651C>T	ENSP00000359244.2:p.Leu551=
ENST00000625514.2:c.1615C>T	ENSP00000486040.1:p.Leu539=
ENST00000626839.2:c.1681C>T	ENSP00000486706.1:p.Leu561=
ENST00000629241.2:c.1651C>T	ENSP00000487142.1:p.Leu551=
ENST00000629318.1:c.343C>T	ENSP00000487384.1:p.Leu115=
ENST00000629676.2:c.1651C>T	ENSP00000486194.1:p.Leu551=
NM_004518.4:c.1651C>T	NP_004509.2:p.Leu551=
NM_172106.1:c.1681C>T	NP_742104.1:p.Leu561=
NM_172107.2:c.1735C>T	NP_742105.1:p.Leu579=
NM_172108.3:c.1642C>T	NP_742106.1:p.Leu548=
XM_006723787.1:c.1735C>T	XP_006723850.1:p.Leu579=
XM_011528807.1:c.1735C>T	XP_011527109.1:p.Leu579=
XM_011528808.1:c.1732C>T	XP_011527110.1:p.Leu578=
XM_011528809.1:c.1705C>T	XP_011527111.1:p.Leu569=
XM_011528810.1:c.1681C>T	XP_011527112.1:p.Leu561=
XM_011528811.1:c.1651C>T	XP_011527113.1:p.Leu551=
XM_011528812.1:c.1732C>T	XP_011527114.1:p.Leu578=
XM_011528813.1:c.1609C>T	XP_011527115.1:p.Leu537=
XM_011528814.1:c.1216C>T	XP_011527116.1:p.Leu406=
XM_011528815.1:c.1735C>T	XP_011527117.1:p.Leu579=
NM_004518.5:c.1651C>T	NP_004509.2:p.Leu551=
NM_172106.2:c.1681C>T	NP_742104.1:p.Leu561=
NM_172107.3:c.1735C>T	NP_742105.1:p.Leu579=
NM_172108.4:c.1642C>T	NP_742106.1:p.Leu548=
XM_011528810.2:c.1681C>T	XP_011527112.1:p.Leu561=
XM_011528811.2:c.1651C>T	XP_011527113.1:p.Leu551=
XM_017027841.2:c.1678C>T	XP_016883330.1:p.Leu560=
XM_017027842.2:c.1681C>T	XP_016883331.1:p.Leu561=
XM_017027843.1:c.1612C>T	XP_016883332.1:p.Leu538=
XM_017027844.2:c.1678C>T	XP_016883333.1:p.Leu560=
XM_017027845.1:c.643C>T	XP_016883334.1:p.Leu215=
NM_004518.6:c.1651C>T	NP_004509.2:p.Leu551=
NM_172106.3:c.1681C>T	NP_742104.1:p.Leu561=
NM_172107.4:c.1735C>T MANE Select	NP_742105.1:p.Leu579=
NM_172108.5:c.1642C>T	NP_742106.1:p.Leu548=
NM_001382235.1:c.1681C>T	NP_001369164.1:p.Leu561=