Canonical Allele Identifier: CA511339695

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038723C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407370C>T , CM000682.2:g.63407370C>T	GRCh38
NC_000020.10:g.62038723C>T , CM000682.1:g.62038723C>T	GRCh37
NC_000020.9:g.61509167C>T	NCBI36
NG_009004.1:g.70271G>A
NG_009004.2:g.70271G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1947G>A	ENSP00000516702.1:p.Leu649=
ENST00000359125.7:c.1893G>A MANE Select	ENSP00000352035.2:p.Leu631=
ENST00000637193.1:c.1290G>A	ENSP00000490734.1:p.Leu430=
ENST00000637338.1:n.50G>A
ENST00000344462.8:c.1800G>A	ENSP00000339611.4:p.Leu600=
ENST00000357249.6:c.1461G>A	ENSP00000349789.3:p.Leu487=
ENST00000359125.6:c.1893G>A	ENSP00000352035.2:p.Leu631=
ENST00000360480.7:c.1809G>A	ENSP00000353668.3:p.Leu603=
ENST00000370224.5:c.1917G>A	ENSP00000359244.2:p.Leu639=
ENST00000625514.2:c.1881G>A	ENSP00000486040.1:p.Leu627=
ENST00000626839.2:c.1839G>A	ENSP00000486706.1:p.Leu613=
ENST00000629241.2:c.1809G>A	ENSP00000487142.1:p.Leu603=
ENST00000629676.2:c.1679+6080G>A	ENSP00000486194.1:n.1679+6080G>A
NM_004518.4:c.1809G>A	NP_004509.2:p.Leu603=
NM_172106.1:c.1839G>A	NP_742104.1:p.Leu613=
NM_172107.2:c.1893G>A	NP_742105.1:p.Leu631=
NM_172108.3:c.1800G>A	NP_742106.1:p.Leu600=
XM_006723787.1:c.1935G>A	XP_006723850.1:p.Leu645=
XM_011528807.1:c.2001G>A	XP_011527109.1:p.Leu667=
XM_011528808.1:c.1998G>A	XP_011527110.1:p.Leu666=
XM_011528809.1:c.1971G>A	XP_011527111.1:p.Leu657=
XM_011528810.1:c.1947G>A	XP_011527112.1:p.Leu649=
XM_011528811.1:c.1917G>A	XP_011527113.1:p.Leu639=
XM_011528812.1:c.1890G>A	XP_011527114.1:p.Leu630=
XM_011528813.1:c.1875G>A	XP_011527115.1:p.Leu625=
XM_011528814.1:c.1482G>A	XP_011527116.1:p.Leu494=
NM_004518.5:c.1809G>A	NP_004509.2:p.Leu603=
NM_172106.2:c.1839G>A	NP_742104.1:p.Leu613=
NM_172107.3:c.1893G>A	NP_742105.1:p.Leu631=
NM_172108.4:c.1800G>A	NP_742106.1:p.Leu600=
XM_011528810.2:c.1947G>A	XP_011527112.1:p.Leu649=
XM_011528811.2:c.1917G>A	XP_011527113.1:p.Leu639=
XM_017027841.2:c.1944G>A	XP_016883330.1:p.Leu648=
XM_017027842.2:c.1881G>A	XP_016883331.1:p.Leu627=
XM_017027843.1:c.1878G>A	XP_016883332.1:p.Leu626=
XM_017027844.2:c.1836G>A	XP_016883333.1:p.Leu612=
XM_017027845.1:c.909G>A	XP_016883334.1:p.Leu303=
NM_004518.6:c.1809G>A	NP_004509.2:p.Leu603=
NM_172106.3:c.1839G>A	NP_742104.1:p.Leu613=
NM_172107.4:c.1893G>A MANE Select	NP_742105.1:p.Leu631=
NM_172108.5:c.1800G>A	NP_742106.1:p.Leu600=
NM_001382235.1:c.1947G>A	NP_001369164.1:p.Leu649=