Canonical Allele Identifier: CA409639570

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038715T>G (hg19) ; chr20:g.63407362T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407362T>G , CM000682.2:g.63407362T>G	GRCh38
NC_000020.10:g.62038715T>G , CM000682.1:g.62038715T>G	GRCh37
NC_000020.9:g.61509159T>G	NCBI36
NG_009004.1:g.70279A>C
NG_009004.2:g.70279A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1955A>C	ENSP00000516702.1:p.Glu652Ala
ENST00000359125.7:c.1901A>C MANE Select	ENSP00000352035.2:p.Glu634Ala
ENST00000637193.1:c.1298A>C	ENSP00000490734.1:p.Glu433Ala
ENST00000637338.1:n.58A>C
ENST00000344462.8:c.1808A>C	ENSP00000339611.4:p.Glu603Ala
ENST00000357249.6:c.1469A>C	ENSP00000349789.3:p.Glu490Ala
ENST00000359125.6:c.1901A>C	ENSP00000352035.2:p.Glu634Ala
ENST00000360480.7:c.1817A>C	ENSP00000353668.3:p.Glu606Ala
ENST00000370224.5:c.1925A>C	ENSP00000359244.2:p.Glu642Ala
ENST00000625514.2:c.1889A>C	ENSP00000486040.1:p.Glu630Ala
ENST00000626839.2:c.1847A>C	ENSP00000486706.1:p.Glu616Ala
ENST00000629241.2:c.1817A>C	ENSP00000487142.1:p.Glu606Ala
ENST00000629676.2:c.1679+6088A>C	ENSP00000486194.1:n.1679+6088A>C
NM_004518.4:c.1817A>C	NP_004509.2:p.Glu606Ala
NM_172106.1:c.1847A>C	NP_742104.1:p.Glu616Ala
NM_172107.2:c.1901A>C	NP_742105.1:p.Glu634Ala
NM_172108.3:c.1808A>C	NP_742106.1:p.Glu603Ala
XM_006723787.1:c.1943A>C	XP_006723850.1:p.Glu648Ala
XM_011528807.1:c.2009A>C	XP_011527109.1:p.Glu670Ala
XM_011528808.1:c.2006A>C	XP_011527110.1:p.Glu669Ala
XM_011528809.1:c.1979A>C	XP_011527111.1:p.Glu660Ala
XM_011528810.1:c.1955A>C	XP_011527112.1:p.Glu652Ala
XM_011528811.1:c.1925A>C	XP_011527113.1:p.Glu642Ala
XM_011528812.1:c.1898A>C	XP_011527114.1:p.Glu633Ala
XM_011528813.1:c.1883A>C	XP_011527115.1:p.Glu628Ala
XM_011528814.1:c.1490A>C	XP_011527116.1:p.Glu497Ala
NM_004518.5:c.1817A>C	NP_004509.2:p.Glu606Ala
NM_172106.2:c.1847A>C	NP_742104.1:p.Glu616Ala
NM_172107.3:c.1901A>C	NP_742105.1:p.Glu634Ala
NM_172108.4:c.1808A>C	NP_742106.1:p.Glu603Ala
XM_011528810.2:c.1955A>C	XP_011527112.1:p.Glu652Ala
XM_011528811.2:c.1925A>C	XP_011527113.1:p.Glu642Ala
XM_017027841.2:c.1952A>C	XP_016883330.1:p.Glu651Ala
XM_017027842.2:c.1889A>C	XP_016883331.1:p.Glu630Ala
XM_017027843.1:c.1886A>C	XP_016883332.1:p.Glu629Ala
XM_017027844.2:c.1844A>C	XP_016883333.1:p.Glu615Ala
XM_017027845.1:c.917A>C	XP_016883334.1:p.Glu306Ala
NM_004518.6:c.1817A>C	NP_004509.2:p.Glu606Ala
NM_172106.3:c.1847A>C	NP_742104.1:p.Glu616Ala
NM_172107.4:c.1901A>C MANE Select	NP_742105.1:p.Glu634Ala
NM_172108.5:c.1808A>C	NP_742106.1:p.Glu603Ala
NM_001382235.1:c.1955A>C	NP_001369164.1:p.Glu652Ala