Canonical Allele Identifier: CA409638183

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038361A>T (hg19) ; chr20:g.63407008A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407008A>T , CM000682.2:g.63407008A>T	GRCh38
NC_000020.10:g.62038361A>T , CM000682.1:g.62038361A>T	GRCh37
NC_000020.9:g.61508805A>T	NCBI36
NG_009004.1:g.70633T>A
NG_009004.2:g.70633T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2309T>A	ENSP00000516702.1:p.Leu770Gln
ENST00000359125.7:c.2255T>A MANE Select	ENSP00000352035.2:p.Leu752Gln
ENST00000637193.1:c.1652T>A	ENSP00000490734.1:p.Leu551Gln
ENST00000344462.8:c.2162T>A	ENSP00000339611.4:p.Leu721Gln
ENST00000357249.6:c.1823T>A	ENSP00000349789.3:p.Leu608Gln
ENST00000359125.6:c.2255T>A	ENSP00000352035.2:p.Leu752Gln
ENST00000360480.7:c.2171T>A	ENSP00000353668.3:p.Leu724Gln
ENST00000370224.5:c.2241+38T>A	ENSP00000359244.2:n.2241+38T>A
ENST00000625514.2:c.2205+38T>A	ENSP00000486040.1:n.2205+38T>A
ENST00000626839.2:c.2201T>A	ENSP00000486706.1:p.Leu734Gln
ENST00000629241.2:c.2133+38T>A	ENSP00000487142.1:n.2133+38T>A
ENST00000629676.2:c.1680-6165T>A	ENSP00000486194.1:n.1680-6165T>A
NM_004518.4:c.2171T>A	NP_004509.2:p.Leu724Gln
NM_172106.1:c.2201T>A	NP_742104.1:p.Leu734Gln
NM_172107.2:c.2255T>A	NP_742105.1:p.Leu752Gln
NM_172108.3:c.2162T>A	NP_742106.1:p.Leu721Gln
XM_006723787.1:c.2297T>A	XP_006723850.1:p.Leu766Gln
XM_011528807.1:c.2363T>A	XP_011527109.1:p.Leu788Gln
XM_011528808.1:c.2360T>A	XP_011527110.1:p.Leu787Gln
XM_011528809.1:c.2333T>A	XP_011527111.1:p.Leu778Gln
XM_011528810.1:c.2309T>A	XP_011527112.1:p.Leu770Gln
XM_011528811.1:c.2279T>A	XP_011527113.1:p.Leu760Gln
XM_011528812.1:c.2252T>A	XP_011527114.1:p.Leu751Gln
XM_011528813.1:c.2237T>A	XP_011527115.1:p.Leu746Gln
XM_011528814.1:c.1844T>A	XP_011527116.1:p.Leu615Gln
NM_004518.5:c.2171T>A	NP_004509.2:p.Leu724Gln
NM_172106.2:c.2201T>A	NP_742104.1:p.Leu734Gln
NM_172107.3:c.2255T>A	NP_742105.1:p.Leu752Gln
NM_172108.4:c.2162T>A	NP_742106.1:p.Leu721Gln
XM_011528810.2:c.2309T>A	XP_011527112.1:p.Leu770Gln
XM_011528811.2:c.2279T>A	XP_011527113.1:p.Leu760Gln
XM_017027841.2:c.2306T>A	XP_016883330.1:p.Leu769Gln
XM_017027842.2:c.2243T>A	XP_016883331.1:p.Leu748Gln
XM_017027843.1:c.2240T>A	XP_016883332.1:p.Leu747Gln
XM_017027844.2:c.2198T>A	XP_016883333.1:p.Leu733Gln
XM_017027845.1:c.1271T>A	XP_016883334.1:p.Leu424Gln
NM_004518.6:c.2171T>A	NP_004509.2:p.Leu724Gln
NM_172106.3:c.2201T>A	NP_742104.1:p.Leu734Gln
NM_172107.4:c.2255T>A MANE Select	NP_742105.1:p.Leu752Gln
NM_172108.5:c.2162T>A	NP_742106.1:p.Leu721Gln
NM_001382235.1:c.2309T>A	NP_001369164.1:p.Leu770Gln