Canonical Allele Identifier: CA409639223

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038622T>A (hg19) ; chr20:g.63407269T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407269T>A , CM000682.2:g.63407269T>A	GRCh38
NC_000020.10:g.62038622T>A , CM000682.1:g.62038622T>A	GRCh37
NC_000020.9:g.61509066T>A	NCBI36
NG_009004.1:g.70372A>T
NG_009004.2:g.70372A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2048A>T	ENSP00000516702.1:p.Glu683Val
ENST00000359125.7:c.1994A>T MANE Select	ENSP00000352035.2:p.Glu665Val
ENST00000637193.1:c.1391A>T	ENSP00000490734.1:p.Glu464Val
ENST00000344462.8:c.1901A>T	ENSP00000339611.4:p.Glu634Val
ENST00000357249.6:c.1562A>T	ENSP00000349789.3:p.Glu521Val
ENST00000359125.6:c.1994A>T	ENSP00000352035.2:p.Glu665Val
ENST00000360480.7:c.1910A>T	ENSP00000353668.3:p.Glu637Val
ENST00000370224.5:c.2018A>T	ENSP00000359244.2:p.Glu673Val
ENST00000625514.2:c.1982A>T	ENSP00000486040.1:p.Glu661Val
ENST00000626839.2:c.1940A>T	ENSP00000486706.1:p.Glu647Val
ENST00000629241.2:c.1910A>T	ENSP00000487142.1:p.Glu637Val
ENST00000629676.2:c.1679+6181A>T	ENSP00000486194.1:n.1679+6181A>T
NM_004518.4:c.1910A>T	NP_004509.2:p.Glu637Val
NM_172106.1:c.1940A>T	NP_742104.1:p.Glu647Val
NM_172107.2:c.1994A>T	NP_742105.1:p.Glu665Val
NM_172108.3:c.1901A>T	NP_742106.1:p.Glu634Val
XM_006723787.1:c.2036A>T	XP_006723850.1:p.Glu679Val
XM_011528807.1:c.2102A>T	XP_011527109.1:p.Glu701Val
XM_011528808.1:c.2099A>T	XP_011527110.1:p.Glu700Val
XM_011528809.1:c.2072A>T	XP_011527111.1:p.Glu691Val
XM_011528810.1:c.2048A>T	XP_011527112.1:p.Glu683Val
XM_011528811.1:c.2018A>T	XP_011527113.1:p.Glu673Val
XM_011528812.1:c.1991A>T	XP_011527114.1:p.Glu664Val
XM_011528813.1:c.1976A>T	XP_011527115.1:p.Glu659Val
XM_011528814.1:c.1583A>T	XP_011527116.1:p.Glu528Val
NM_004518.5:c.1910A>T	NP_004509.2:p.Glu637Val
NM_172106.2:c.1940A>T	NP_742104.1:p.Glu647Val
NM_172107.3:c.1994A>T	NP_742105.1:p.Glu665Val
NM_172108.4:c.1901A>T	NP_742106.1:p.Glu634Val
XM_011528810.2:c.2048A>T	XP_011527112.1:p.Glu683Val
XM_011528811.2:c.2018A>T	XP_011527113.1:p.Glu673Val
XM_017027841.2:c.2045A>T	XP_016883330.1:p.Glu682Val
XM_017027842.2:c.1982A>T	XP_016883331.1:p.Glu661Val
XM_017027843.1:c.1979A>T	XP_016883332.1:p.Glu660Val
XM_017027844.2:c.1937A>T	XP_016883333.1:p.Glu646Val
XM_017027845.1:c.1010A>T	XP_016883334.1:p.Glu337Val
NM_004518.6:c.1910A>T	NP_004509.2:p.Glu637Val
NM_172106.3:c.1940A>T	NP_742104.1:p.Glu647Val
NM_172107.4:c.1994A>T MANE Select	NP_742105.1:p.Glu665Val
NM_172108.5:c.1901A>T	NP_742106.1:p.Glu634Val
NM_001382235.1:c.2048A>T	NP_001369164.1:p.Glu683Val