Canonical Allele Identifier: CA409637517

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038256G>T (hg19) ; chr20:g.63406903G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406903G>T , CM000682.2:g.63406903G>T	GRCh38
NC_000020.10:g.62038256G>T , CM000682.1:g.62038256G>T	GRCh37
NC_000020.9:g.61508700G>T	NCBI36
NG_009004.1:g.70738C>A
NG_009004.2:g.70738C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2414C>A	ENSP00000516702.1:p.Ser805Tyr
ENST00000359125.7:c.2360C>A MANE Select	ENSP00000352035.2:p.Ser787Tyr
ENST00000637193.1:c.1757C>A	ENSP00000490734.1:p.Ser586Tyr
ENST00000344462.8:c.2267C>A	ENSP00000339611.4:p.Ser756Tyr
ENST00000357249.6:c.1928C>A	ENSP00000349789.3:p.Ser643Tyr
ENST00000359125.6:c.2360C>A	ENSP00000352035.2:p.Ser787Tyr
ENST00000360480.7:c.2276C>A	ENSP00000353668.3:p.Ser759Tyr
ENST00000370224.5:c.2241+143C>A	ENSP00000359244.2:n.2241+143C>A
ENST00000625514.2:c.2205+143C>A	ENSP00000486040.1:n.2205+143C>A
ENST00000626839.2:c.2306C>A	ENSP00000486706.1:p.Ser769Tyr
ENST00000629241.2:c.2133+143C>A	ENSP00000487142.1:n.2133+143C>A
ENST00000629676.2:c.1680-6060C>A	ENSP00000486194.1:n.1680-6060C>A
NM_004518.4:c.2276C>A	NP_004509.2:p.Ser759Tyr
NM_172106.1:c.2306C>A	NP_742104.1:p.Ser769Tyr
NM_172107.2:c.2360C>A	NP_742105.1:p.Ser787Tyr
NM_172108.3:c.2267C>A	NP_742106.1:p.Ser756Tyr
XM_006723787.1:c.2402C>A	XP_006723850.1:p.Ser801Tyr
XM_011528807.1:c.2468C>A	XP_011527109.1:p.Ser823Tyr
XM_011528808.1:c.2465C>A	XP_011527110.1:p.Ser822Tyr
XM_011528809.1:c.2438C>A	XP_011527111.1:p.Ser813Tyr
XM_011528810.1:c.2414C>A	XP_011527112.1:p.Ser805Tyr
XM_011528811.1:c.2384C>A	XP_011527113.1:p.Ser795Tyr
XM_011528812.1:c.2357C>A	XP_011527114.1:p.Ser786Tyr
XM_011528813.1:c.2342C>A	XP_011527115.1:p.Ser781Tyr
XM_011528814.1:c.1949C>A	XP_011527116.1:p.Ser650Tyr
NM_004518.5:c.2276C>A	NP_004509.2:p.Ser759Tyr
NM_172106.2:c.2306C>A	NP_742104.1:p.Ser769Tyr
NM_172107.3:c.2360C>A	NP_742105.1:p.Ser787Tyr
NM_172108.4:c.2267C>A	NP_742106.1:p.Ser756Tyr
XM_011528810.2:c.2414C>A	XP_011527112.1:p.Ser805Tyr
XM_011528811.2:c.2384C>A	XP_011527113.1:p.Ser795Tyr
XM_017027841.2:c.2411C>A	XP_016883330.1:p.Ser804Tyr
XM_017027842.2:c.2348C>A	XP_016883331.1:p.Ser783Tyr
XM_017027843.1:c.2345C>A	XP_016883332.1:p.Ser782Tyr
XM_017027844.2:c.2303C>A	XP_016883333.1:p.Ser768Tyr
XM_017027845.1:c.1376C>A	XP_016883334.1:p.Ser459Tyr
NM_004518.6:c.2276C>A	NP_004509.2:p.Ser759Tyr
NM_172106.3:c.2306C>A	NP_742104.1:p.Ser769Tyr
NM_172107.4:c.2360C>A MANE Select	NP_742105.1:p.Ser787Tyr
NM_172108.5:c.2267C>A	NP_742106.1:p.Ser756Tyr
NM_001382235.1:c.2414C>A	NP_001369164.1:p.Ser805Tyr