Canonical Allele Identifier: CA409638018

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038331C>A (hg19) ; chr20:g.63406978C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406978C>A , CM000682.2:g.63406978C>A	GRCh38
NC_000020.10:g.62038331C>A , CM000682.1:g.62038331C>A	GRCh37
NC_000020.9:g.61508775C>A	NCBI36
NG_009004.1:g.70663G>T
NG_009004.2:g.70663G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2339G>T	ENSP00000516702.1:p.Ser780Ile
ENST00000359125.7:c.2285G>T MANE Select	ENSP00000352035.2:p.Ser762Ile
ENST00000637193.1:c.1682G>T	ENSP00000490734.1:p.Ser561Ile
ENST00000344462.8:c.2192G>T	ENSP00000339611.4:p.Ser731Ile
ENST00000357249.6:c.1853G>T	ENSP00000349789.3:p.Ser618Ile
ENST00000359125.6:c.2285G>T	ENSP00000352035.2:p.Ser762Ile
ENST00000360480.7:c.2201G>T	ENSP00000353668.3:p.Ser734Ile
ENST00000370224.5:c.2241+68G>T	ENSP00000359244.2:n.2241+68G>T
ENST00000625514.2:c.2205+68G>T	ENSP00000486040.1:n.2205+68G>T
ENST00000626839.2:c.2231G>T	ENSP00000486706.1:p.Ser744Ile
ENST00000629241.2:c.2133+68G>T	ENSP00000487142.1:n.2133+68G>T
ENST00000629676.2:c.1680-6135G>T	ENSP00000486194.1:n.1680-6135G>T
NM_004518.4:c.2201G>T	NP_004509.2:p.Ser734Ile
NM_172106.1:c.2231G>T	NP_742104.1:p.Ser744Ile
NM_172107.2:c.2285G>T	NP_742105.1:p.Ser762Ile
NM_172108.3:c.2192G>T	NP_742106.1:p.Ser731Ile
XM_006723787.1:c.2327G>T	XP_006723850.1:p.Ser776Ile
XM_011528807.1:c.2393G>T	XP_011527109.1:p.Ser798Ile
XM_011528808.1:c.2390G>T	XP_011527110.1:p.Ser797Ile
XM_011528809.1:c.2363G>T	XP_011527111.1:p.Ser788Ile
XM_011528810.1:c.2339G>T	XP_011527112.1:p.Ser780Ile
XM_011528811.1:c.2309G>T	XP_011527113.1:p.Ser770Ile
XM_011528812.1:c.2282G>T	XP_011527114.1:p.Ser761Ile
XM_011528813.1:c.2267G>T	XP_011527115.1:p.Ser756Ile
XM_011528814.1:c.1874G>T	XP_011527116.1:p.Ser625Ile
NM_004518.5:c.2201G>T	NP_004509.2:p.Ser734Ile
NM_172106.2:c.2231G>T	NP_742104.1:p.Ser744Ile
NM_172107.3:c.2285G>T	NP_742105.1:p.Ser762Ile
NM_172108.4:c.2192G>T	NP_742106.1:p.Ser731Ile
XM_011528810.2:c.2339G>T	XP_011527112.1:p.Ser780Ile
XM_011528811.2:c.2309G>T	XP_011527113.1:p.Ser770Ile
XM_017027841.2:c.2336G>T	XP_016883330.1:p.Ser779Ile
XM_017027842.2:c.2273G>T	XP_016883331.1:p.Ser758Ile
XM_017027843.1:c.2270G>T	XP_016883332.1:p.Ser757Ile
XM_017027844.2:c.2228G>T	XP_016883333.1:p.Ser743Ile
XM_017027845.1:c.1301G>T	XP_016883334.1:p.Ser434Ile
NM_004518.6:c.2201G>T	NP_004509.2:p.Ser734Ile
NM_172106.3:c.2231G>T	NP_742104.1:p.Ser744Ile
NM_172107.4:c.2285G>T MANE Select	NP_742105.1:p.Ser762Ile
NM_172108.5:c.2192G>T	NP_742106.1:p.Ser731Ile
NM_001382235.1:c.2339G>T	NP_001369164.1:p.Ser780Ile