Canonical Allele Identifier: CA409638029

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038332T>A (hg19) ; chr20:g.63406979T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406979T>A , CM000682.2:g.63406979T>A	GRCh38
NC_000020.10:g.62038332T>A , CM000682.1:g.62038332T>A	GRCh37
NC_000020.9:g.61508776T>A	NCBI36
NG_009004.1:g.70662A>T
NG_009004.2:g.70662A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2338A>T	ENSP00000516702.1:p.Ser780Cys
ENST00000359125.7:c.2284A>T MANE Select	ENSP00000352035.2:p.Ser762Cys
ENST00000637193.1:c.1681A>T	ENSP00000490734.1:p.Ser561Cys
ENST00000344462.8:c.2191A>T	ENSP00000339611.4:p.Ser731Cys
ENST00000357249.6:c.1852A>T	ENSP00000349789.3:p.Ser618Cys
ENST00000359125.6:c.2284A>T	ENSP00000352035.2:p.Ser762Cys
ENST00000360480.7:c.2200A>T	ENSP00000353668.3:p.Ser734Cys
ENST00000370224.5:c.2241+67A>T	ENSP00000359244.2:n.2241+67A>T
ENST00000625514.2:c.2205+67A>T	ENSP00000486040.1:n.2205+67A>T
ENST00000626839.2:c.2230A>T	ENSP00000486706.1:p.Ser744Cys
ENST00000629241.2:c.2133+67A>T	ENSP00000487142.1:n.2133+67A>T
ENST00000629676.2:c.1680-6136A>T	ENSP00000486194.1:n.1680-6136A>T
NM_004518.4:c.2200A>T	NP_004509.2:p.Ser734Cys
NM_172106.1:c.2230A>T	NP_742104.1:p.Ser744Cys
NM_172107.2:c.2284A>T	NP_742105.1:p.Ser762Cys
NM_172108.3:c.2191A>T	NP_742106.1:p.Ser731Cys
XM_006723787.1:c.2326A>T	XP_006723850.1:p.Ser776Cys
XM_011528807.1:c.2392A>T	XP_011527109.1:p.Ser798Cys
XM_011528808.1:c.2389A>T	XP_011527110.1:p.Ser797Cys
XM_011528809.1:c.2362A>T	XP_011527111.1:p.Ser788Cys
XM_011528810.1:c.2338A>T	XP_011527112.1:p.Ser780Cys
XM_011528811.1:c.2308A>T	XP_011527113.1:p.Ser770Cys
XM_011528812.1:c.2281A>T	XP_011527114.1:p.Ser761Cys
XM_011528813.1:c.2266A>T	XP_011527115.1:p.Ser756Cys
XM_011528814.1:c.1873A>T	XP_011527116.1:p.Ser625Cys
NM_004518.5:c.2200A>T	NP_004509.2:p.Ser734Cys
NM_172106.2:c.2230A>T	NP_742104.1:p.Ser744Cys
NM_172107.3:c.2284A>T	NP_742105.1:p.Ser762Cys
NM_172108.4:c.2191A>T	NP_742106.1:p.Ser731Cys
XM_011528810.2:c.2338A>T	XP_011527112.1:p.Ser780Cys
XM_011528811.2:c.2308A>T	XP_011527113.1:p.Ser770Cys
XM_017027841.2:c.2335A>T	XP_016883330.1:p.Ser779Cys
XM_017027842.2:c.2272A>T	XP_016883331.1:p.Ser758Cys
XM_017027843.1:c.2269A>T	XP_016883332.1:p.Ser757Cys
XM_017027844.2:c.2227A>T	XP_016883333.1:p.Ser743Cys
XM_017027845.1:c.1300A>T	XP_016883334.1:p.Ser434Cys
NM_004518.6:c.2200A>T	NP_004509.2:p.Ser734Cys
NM_172106.3:c.2230A>T	NP_742104.1:p.Ser744Cys
NM_172107.4:c.2284A>T MANE Select	NP_742105.1:p.Ser762Cys
NM_172108.5:c.2191A>T	NP_742106.1:p.Ser731Cys
NM_001382235.1:c.2338A>T	NP_001369164.1:p.Ser780Cys