Canonical Allele Identifier: CA409637513

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406903-G-A
• MyVariant Identifiers: chr20:g.62038256G>A (hg19) ; chr20:g.63406903G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2414C>T	ENSP00000516702.1:p.Ser805Phe
ENST00000359125.7:c.2360C>T MANE Select	ENSP00000352035.2:p.Ser787Phe
ENST00000637193.1:c.1757C>T	ENSP00000490734.1:p.Ser586Phe
ENST00000344462.8:c.2267C>T	ENSP00000339611.4:p.Ser756Phe
ENST00000357249.6:c.1928C>T	ENSP00000349789.3:p.Ser643Phe
ENST00000359125.6:c.2360C>T	ENSP00000352035.2:p.Ser787Phe
ENST00000360480.7:c.2276C>T	ENSP00000353668.3:p.Ser759Phe
ENST00000370224.5:c.2241+143C>T	ENSP00000359244.2:n.2241+143C>T
ENST00000625514.2:c.2205+143C>T	ENSP00000486040.1:n.2205+143C>T
ENST00000626839.2:c.2306C>T	ENSP00000486706.1:p.Ser769Phe
ENST00000629241.2:c.2133+143C>T	ENSP00000487142.1:n.2133+143C>T
ENST00000629676.2:c.1680-6060C>T	ENSP00000486194.1:n.1680-6060C>T
NM_004518.4:c.2276C>T	NP_004509.2:p.Ser759Phe
NM_172106.1:c.2306C>T	NP_742104.1:p.Ser769Phe
NM_172107.2:c.2360C>T	NP_742105.1:p.Ser787Phe
NM_172108.3:c.2267C>T	NP_742106.1:p.Ser756Phe
XM_006723787.1:c.2402C>T	XP_006723850.1:p.Ser801Phe
XM_011528807.1:c.2468C>T	XP_011527109.1:p.Ser823Phe
XM_011528808.1:c.2465C>T	XP_011527110.1:p.Ser822Phe
XM_011528809.1:c.2438C>T	XP_011527111.1:p.Ser813Phe
XM_011528810.1:c.2414C>T	XP_011527112.1:p.Ser805Phe
XM_011528811.1:c.2384C>T	XP_011527113.1:p.Ser795Phe
XM_011528812.1:c.2357C>T	XP_011527114.1:p.Ser786Phe
XM_011528813.1:c.2342C>T	XP_011527115.1:p.Ser781Phe
XM_011528814.1:c.1949C>T	XP_011527116.1:p.Ser650Phe
NM_004518.5:c.2276C>T	NP_004509.2:p.Ser759Phe
NM_172106.2:c.2306C>T	NP_742104.1:p.Ser769Phe
NM_172107.3:c.2360C>T	NP_742105.1:p.Ser787Phe
NM_172108.4:c.2267C>T	NP_742106.1:p.Ser756Phe
XM_011528810.2:c.2414C>T	XP_011527112.1:p.Ser805Phe
XM_011528811.2:c.2384C>T	XP_011527113.1:p.Ser795Phe
XM_017027841.2:c.2411C>T	XP_016883330.1:p.Ser804Phe
XM_017027842.2:c.2348C>T	XP_016883331.1:p.Ser783Phe
XM_017027843.1:c.2345C>T	XP_016883332.1:p.Ser782Phe
XM_017027844.2:c.2303C>T	XP_016883333.1:p.Ser768Phe
XM_017027845.1:c.1376C>T	XP_016883334.1:p.Ser459Phe
NM_004518.6:c.2276C>T	NP_004509.2:p.Ser759Phe
NM_172106.3:c.2306C>T	NP_742104.1:p.Ser769Phe
NM_172107.4:c.2360C>T MANE Select	NP_742105.1:p.Ser787Phe
NM_172108.5:c.2267C>T	NP_742106.1:p.Ser756Phe
NM_001382235.1:c.2414C>T	NP_001369164.1:p.Ser805Phe