Canonical Allele Identifier: CA409637424

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038241G>T (hg19) ; chr20:g.63406888G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406888G>T , CM000682.2:g.63406888G>T	GRCh38
NC_000020.10:g.62038241G>T , CM000682.1:g.62038241G>T	GRCh37
NC_000020.9:g.61508685G>T	NCBI36
NG_009004.1:g.70753C>A
NG_009004.2:g.70753C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2429C>A	ENSP00000516702.1:p.Ser810Tyr
ENST00000359125.7:c.2375C>A MANE Select	ENSP00000352035.2:p.Ser792Tyr
ENST00000637193.1:c.1772C>A	ENSP00000490734.1:p.Ser591Tyr
ENST00000344462.8:c.2282C>A	ENSP00000339611.4:p.Ser761Tyr
ENST00000357249.6:c.1943C>A	ENSP00000349789.3:p.Ser648Tyr
ENST00000359125.6:c.2375C>A	ENSP00000352035.2:p.Ser792Tyr
ENST00000360480.7:c.2291C>A	ENSP00000353668.3:p.Ser764Tyr
ENST00000370224.5:c.2241+158C>A	ENSP00000359244.2:n.2241+158C>A
ENST00000625514.2:c.2205+158C>A	ENSP00000486040.1:n.2205+158C>A
ENST00000626839.2:c.2321C>A	ENSP00000486706.1:p.Ser774Tyr
ENST00000629241.2:c.2133+158C>A	ENSP00000487142.1:n.2133+158C>A
ENST00000629676.2:c.1680-6045C>A	ENSP00000486194.1:n.1680-6045C>A
NM_004518.4:c.2291C>A	NP_004509.2:p.Ser764Tyr
NM_172106.1:c.2321C>A	NP_742104.1:p.Ser774Tyr
NM_172107.2:c.2375C>A	NP_742105.1:p.Ser792Tyr
NM_172108.3:c.2282C>A	NP_742106.1:p.Ser761Tyr
XM_006723787.1:c.2417C>A	XP_006723850.1:p.Ser806Tyr
XM_011528807.1:c.2483C>A	XP_011527109.1:p.Ser828Tyr
XM_011528808.1:c.2480C>A	XP_011527110.1:p.Ser827Tyr
XM_011528809.1:c.2453C>A	XP_011527111.1:p.Ser818Tyr
XM_011528810.1:c.2429C>A	XP_011527112.1:p.Ser810Tyr
XM_011528811.1:c.2399C>A	XP_011527113.1:p.Ser800Tyr
XM_011528812.1:c.2372C>A	XP_011527114.1:p.Ser791Tyr
XM_011528813.1:c.2357C>A	XP_011527115.1:p.Ser786Tyr
XM_011528814.1:c.1964C>A	XP_011527116.1:p.Ser655Tyr
NM_004518.5:c.2291C>A	NP_004509.2:p.Ser764Tyr
NM_172106.2:c.2321C>A	NP_742104.1:p.Ser774Tyr
NM_172107.3:c.2375C>A	NP_742105.1:p.Ser792Tyr
NM_172108.4:c.2282C>A	NP_742106.1:p.Ser761Tyr
XM_011528810.2:c.2429C>A	XP_011527112.1:p.Ser810Tyr
XM_011528811.2:c.2399C>A	XP_011527113.1:p.Ser800Tyr
XM_017027841.2:c.2426C>A	XP_016883330.1:p.Ser809Tyr
XM_017027842.2:c.2363C>A	XP_016883331.1:p.Ser788Tyr
XM_017027843.1:c.2360C>A	XP_016883332.1:p.Ser787Tyr
XM_017027844.2:c.2318C>A	XP_016883333.1:p.Ser773Tyr
XM_017027845.1:c.1391C>A	XP_016883334.1:p.Ser464Tyr
NM_004518.6:c.2291C>A	NP_004509.2:p.Ser764Tyr
NM_172106.3:c.2321C>A	NP_742104.1:p.Ser774Tyr
NM_172107.4:c.2375C>A MANE Select	NP_742105.1:p.Ser792Tyr
NM_172108.5:c.2282C>A	NP_742106.1:p.Ser761Tyr
NM_001382235.1:c.2429C>A	NP_001369164.1:p.Ser810Tyr