Canonical Allele Identifier: CA409645768

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62045537A>T (hg19) ; chr20:g.63414184A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414184A>T , CM000682.2:g.63414184A>T	GRCh38
NC_000020.10:g.62045537A>T , CM000682.1:g.62045537A>T	GRCh37
NC_000020.9:g.61515981A>T	NCBI36
NG_009004.1:g.63457T>A
NG_009004.2:g.63457T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1481T>A	ENSP00000516702.1:p.Leu494His
ENST00000359125.7:c.1535T>A MANE Select	ENSP00000352035.2:p.Leu512His
ENST00000637193.1:c.932T>A	ENSP00000490734.1:p.Leu311His
ENST00000344462.8:c.1442T>A	ENSP00000339611.4:p.Leu481His
ENST00000357249.6:c.1103T>A	ENSP00000349789.3:p.Leu368His
ENST00000359125.6:c.1535T>A	ENSP00000352035.2:p.Leu512His
ENST00000360480.7:c.1451T>A	ENSP00000353668.3:p.Leu484His
ENST00000370224.5:c.1451T>A	ENSP00000359244.2:p.Leu484His
ENST00000625514.2:c.1415T>A	ENSP00000486040.1:p.Leu472His
ENST00000626839.2:c.1481T>A	ENSP00000486706.1:p.Leu494His
ENST00000627221.2:c.592T>A
ENST00000629241.2:c.1451T>A	ENSP00000487142.1:p.Leu484His
ENST00000629318.1:c.143T>A	ENSP00000487384.1:p.Leu48His
ENST00000629676.2:c.1451T>A	ENSP00000486194.1:p.Leu484His
NM_004518.4:c.1451T>A	NP_004509.2:p.Leu484His
NM_172106.1:c.1481T>A	NP_742104.1:p.Leu494His
NM_172107.2:c.1535T>A	NP_742105.1:p.Leu512His
NM_172108.3:c.1442T>A	NP_742106.1:p.Leu481His
XM_006723787.1:c.1535T>A	XP_006723850.1:p.Leu512His
XM_011528807.1:c.1535T>A	XP_011527109.1:p.Leu512His
XM_011528808.1:c.1532T>A	XP_011527110.1:p.Leu511His
XM_011528809.1:c.1505T>A	XP_011527111.1:p.Leu502His
XM_011528810.1:c.1481T>A	XP_011527112.1:p.Leu494His
XM_011528811.1:c.1451T>A	XP_011527113.1:p.Leu484His
XM_011528812.1:c.1532T>A	XP_011527114.1:p.Leu511His
XM_011528813.1:c.1409T>A	XP_011527115.1:p.Leu470His
XM_011528814.1:c.1016T>A	XP_011527116.1:p.Leu339His
XM_011528815.1:c.1535T>A	XP_011527117.1:p.Leu512His
NM_004518.5:c.1451T>A	NP_004509.2:p.Leu484His
NM_172106.2:c.1481T>A	NP_742104.1:p.Leu494His
NM_172107.3:c.1535T>A	NP_742105.1:p.Leu512His
NM_172108.4:c.1442T>A	NP_742106.1:p.Leu481His
XM_011528810.2:c.1481T>A	XP_011527112.1:p.Leu494His
XM_011528811.2:c.1451T>A	XP_011527113.1:p.Leu484His
XM_017027841.2:c.1478T>A	XP_016883330.1:p.Leu493His
XM_017027842.2:c.1481T>A	XP_016883331.1:p.Leu494His
XM_017027843.1:c.1412T>A	XP_016883332.1:p.Leu471His
XM_017027844.2:c.1478T>A	XP_016883333.1:p.Leu493His
XM_017027845.1:c.443T>A	XP_016883334.1:p.Leu148His
NM_004518.6:c.1451T>A	NP_004509.2:p.Leu484His
NM_172106.3:c.1481T>A	NP_742104.1:p.Leu494His
NM_172107.4:c.1535T>A MANE Select	NP_742105.1:p.Leu512His
NM_172108.5:c.1442T>A	NP_742106.1:p.Leu481His
NM_001382235.1:c.1481T>A	NP_001369164.1:p.Leu494His