Canonical Allele Identifier: CA409638608

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038424G>A (hg19) ; chr20:g.63407071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407071G>A , CM000682.2:g.63407071G>A	GRCh38
NC_000020.10:g.62038424G>A , CM000682.1:g.62038424G>A	GRCh37
NC_000020.9:g.61508868G>A	NCBI36
NG_009004.1:g.70570C>T
NG_009004.2:g.70570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2246C>T	ENSP00000516702.1:p.Ser749Phe
ENST00000359125.7:c.2192C>T MANE Select	ENSP00000352035.2:p.Ser731Phe
ENST00000637193.1:c.1589C>T	ENSP00000490734.1:p.Ser530Phe
ENST00000344462.8:c.2099C>T	ENSP00000339611.4:p.Ser700Phe
ENST00000357249.6:c.1760C>T	ENSP00000349789.3:p.Ser587Phe
ENST00000359125.6:c.2192C>T	ENSP00000352035.2:p.Ser731Phe
ENST00000360480.7:c.2108C>T	ENSP00000353668.3:p.Ser703Phe
ENST00000370224.5:c.2216C>T	ENSP00000359244.2:p.Ser739Phe
ENST00000625514.2:c.2180C>T	ENSP00000486040.1:p.Ser727Phe
ENST00000626839.2:c.2138C>T	ENSP00000486706.1:p.Ser713Phe
ENST00000629241.2:c.2108C>T	ENSP00000487142.1:p.Ser703Phe
ENST00000629676.2:c.1680-6228C>T	ENSP00000486194.1:n.1680-6228C>T
NM_004518.4:c.2108C>T	NP_004509.2:p.Ser703Phe
NM_172106.1:c.2138C>T	NP_742104.1:p.Ser713Phe
NM_172107.2:c.2192C>T	NP_742105.1:p.Ser731Phe
NM_172108.3:c.2099C>T	NP_742106.1:p.Ser700Phe
XM_006723787.1:c.2234C>T	XP_006723850.1:p.Ser745Phe
XM_011528807.1:c.2300C>T	XP_011527109.1:p.Ser767Phe
XM_011528808.1:c.2297C>T	XP_011527110.1:p.Ser766Phe
XM_011528809.1:c.2270C>T	XP_011527111.1:p.Ser757Phe
XM_011528810.1:c.2246C>T	XP_011527112.1:p.Ser749Phe
XM_011528811.1:c.2216C>T	XP_011527113.1:p.Ser739Phe
XM_011528812.1:c.2189C>T	XP_011527114.1:p.Ser730Phe
XM_011528813.1:c.2174C>T	XP_011527115.1:p.Ser725Phe
XM_011528814.1:c.1781C>T	XP_011527116.1:p.Ser594Phe
NM_004518.5:c.2108C>T	NP_004509.2:p.Ser703Phe
NM_172106.2:c.2138C>T	NP_742104.1:p.Ser713Phe
NM_172107.3:c.2192C>T	NP_742105.1:p.Ser731Phe
NM_172108.4:c.2099C>T	NP_742106.1:p.Ser700Phe
XM_011528810.2:c.2246C>T	XP_011527112.1:p.Ser749Phe
XM_011528811.2:c.2216C>T	XP_011527113.1:p.Ser739Phe
XM_017027841.2:c.2243C>T	XP_016883330.1:p.Ser748Phe
XM_017027842.2:c.2180C>T	XP_016883331.1:p.Ser727Phe
XM_017027843.1:c.2177C>T	XP_016883332.1:p.Ser726Phe
XM_017027844.2:c.2135C>T	XP_016883333.1:p.Ser712Phe
XM_017027845.1:c.1208C>T	XP_016883334.1:p.Ser403Phe
NM_004518.6:c.2108C>T	NP_004509.2:p.Ser703Phe
NM_172106.3:c.2138C>T	NP_742104.1:p.Ser713Phe
NM_172107.4:c.2192C>T MANE Select	NP_742105.1:p.Ser731Phe
NM_172108.5:c.2099C>T	NP_742106.1:p.Ser700Phe
NM_001382235.1:c.2246C>T	NP_001369164.1:p.Ser749Phe