Canonical Allele Identifier: CA409639333

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038656C>A (hg19) ; chr20:g.63407303C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407303C>A , CM000682.2:g.63407303C>A	GRCh38
NC_000020.10:g.62038656C>A , CM000682.1:g.62038656C>A	GRCh37
NC_000020.9:g.61509100C>A	NCBI36
NG_009004.1:g.70338G>T
NG_009004.2:g.70338G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2014G>T	ENSP00000516702.1:p.Glu672Ter
ENST00000359125.7:c.1960G>T MANE Select	ENSP00000352035.2:p.Glu654Ter
ENST00000637193.1:c.1357G>T	ENSP00000490734.1:p.Glu453Ter
ENST00000344462.8:c.1867G>T	ENSP00000339611.4:p.Glu623Ter
ENST00000357249.6:c.1528G>T	ENSP00000349789.3:p.Glu510Ter
ENST00000359125.6:c.1960G>T	ENSP00000352035.2:p.Glu654Ter
ENST00000360480.7:c.1876G>T	ENSP00000353668.3:p.Glu626Ter
ENST00000370224.5:c.1984G>T	ENSP00000359244.2:p.Glu662Ter
ENST00000625514.2:c.1948G>T	ENSP00000486040.1:p.Glu650Ter
ENST00000626839.2:c.1906G>T	ENSP00000486706.1:p.Glu636Ter
ENST00000629241.2:c.1876G>T	ENSP00000487142.1:p.Glu626Ter
ENST00000629676.2:c.1679+6147G>T	ENSP00000486194.1:n.1679+6147G>T
NM_004518.4:c.1876G>T	NP_004509.2:p.Glu626Ter
NM_172106.1:c.1906G>T	NP_742104.1:p.Glu636Ter
NM_172107.2:c.1960G>T	NP_742105.1:p.Glu654Ter
NM_172108.3:c.1867G>T	NP_742106.1:p.Glu623Ter
XM_006723787.1:c.2002G>T	XP_006723850.1:p.Glu668Ter
XM_011528807.1:c.2068G>T	XP_011527109.1:p.Glu690Ter
XM_011528808.1:c.2065G>T	XP_011527110.1:p.Glu689Ter
XM_011528809.1:c.2038G>T	XP_011527111.1:p.Glu680Ter
XM_011528810.1:c.2014G>T	XP_011527112.1:p.Glu672Ter
XM_011528811.1:c.1984G>T	XP_011527113.1:p.Glu662Ter
XM_011528812.1:c.1957G>T	XP_011527114.1:p.Glu653Ter
XM_011528813.1:c.1942G>T	XP_011527115.1:p.Glu648Ter
XM_011528814.1:c.1549G>T	XP_011527116.1:p.Glu517Ter
NM_004518.5:c.1876G>T	NP_004509.2:p.Glu626Ter
NM_172106.2:c.1906G>T	NP_742104.1:p.Glu636Ter
NM_172107.3:c.1960G>T	NP_742105.1:p.Glu654Ter
NM_172108.4:c.1867G>T	NP_742106.1:p.Glu623Ter
XM_011528810.2:c.2014G>T	XP_011527112.1:p.Glu672Ter
XM_011528811.2:c.1984G>T	XP_011527113.1:p.Glu662Ter
XM_017027841.2:c.2011G>T	XP_016883330.1:p.Glu671Ter
XM_017027842.2:c.1948G>T	XP_016883331.1:p.Glu650Ter
XM_017027843.1:c.1945G>T	XP_016883332.1:p.Glu649Ter
XM_017027844.2:c.1903G>T	XP_016883333.1:p.Glu635Ter
XM_017027845.1:c.976G>T	XP_016883334.1:p.Glu326Ter
NM_004518.6:c.1876G>T	NP_004509.2:p.Glu626Ter
NM_172106.3:c.1906G>T	NP_742104.1:p.Glu636Ter
NM_172107.4:c.1960G>T MANE Select	NP_742105.1:p.Glu654Ter
NM_172108.5:c.1867G>T	NP_742106.1:p.Glu623Ter
NM_001382235.1:c.2014G>T	NP_001369164.1:p.Glu672Ter