Canonical Allele Identifier: CA409637417

Gene: KCNQ2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2429C>T	ENSP00000516702.1:p.Ser810Phe
ENST00000359125.7:c.2375C>T MANE Select	ENSP00000352035.2:p.Ser792Phe
ENST00000637193.1:c.1772C>T	ENSP00000490734.1:p.Ser591Phe
ENST00000344462.8:c.2282C>T	ENSP00000339611.4:p.Ser761Phe
ENST00000357249.6:c.1943C>T	ENSP00000349789.3:p.Ser648Phe
ENST00000359125.6:c.2375C>T	ENSP00000352035.2:p.Ser792Phe
ENST00000360480.7:c.2291C>T	ENSP00000353668.3:p.Ser764Phe
ENST00000370224.5:c.2241+158C>T	ENSP00000359244.2:n.2241+158C>T
ENST00000625514.2:c.2205+158C>T	ENSP00000486040.1:n.2205+158C>T
ENST00000626839.2:c.2321C>T	ENSP00000486706.1:p.Ser774Phe
ENST00000629241.2:c.2133+158C>T	ENSP00000487142.1:n.2133+158C>T
ENST00000629676.2:c.1680-6045C>T	ENSP00000486194.1:n.1680-6045C>T
NM_004518.4:c.2291C>T	NP_004509.2:p.Ser764Phe
NM_172106.1:c.2321C>T	NP_742104.1:p.Ser774Phe
NM_172107.2:c.2375C>T	NP_742105.1:p.Ser792Phe
NM_172108.3:c.2282C>T	NP_742106.1:p.Ser761Phe
XM_006723787.1:c.2417C>T	XP_006723850.1:p.Ser806Phe
XM_011528807.1:c.2483C>T	XP_011527109.1:p.Ser828Phe
XM_011528808.1:c.2480C>T	XP_011527110.1:p.Ser827Phe
XM_011528809.1:c.2453C>T	XP_011527111.1:p.Ser818Phe
XM_011528810.1:c.2429C>T	XP_011527112.1:p.Ser810Phe
XM_011528811.1:c.2399C>T	XP_011527113.1:p.Ser800Phe
XM_011528812.1:c.2372C>T	XP_011527114.1:p.Ser791Phe
XM_011528813.1:c.2357C>T	XP_011527115.1:p.Ser786Phe
XM_011528814.1:c.1964C>T	XP_011527116.1:p.Ser655Phe
NM_004518.5:c.2291C>T	NP_004509.2:p.Ser764Phe
NM_172106.2:c.2321C>T	NP_742104.1:p.Ser774Phe
NM_172107.3:c.2375C>T	NP_742105.1:p.Ser792Phe
NM_172108.4:c.2282C>T	NP_742106.1:p.Ser761Phe
XM_011528810.2:c.2429C>T	XP_011527112.1:p.Ser810Phe
XM_011528811.2:c.2399C>T	XP_011527113.1:p.Ser800Phe
XM_017027841.2:c.2426C>T	XP_016883330.1:p.Ser809Phe
XM_017027842.2:c.2363C>T	XP_016883331.1:p.Ser788Phe
XM_017027843.1:c.2360C>T	XP_016883332.1:p.Ser787Phe
XM_017027844.2:c.2318C>T	XP_016883333.1:p.Ser773Phe
XM_017027845.1:c.1391C>T	XP_016883334.1:p.Ser464Phe
NM_004518.6:c.2291C>T	NP_004509.2:p.Ser764Phe
NM_172106.3:c.2321C>T	NP_742104.1:p.Ser774Phe
NM_172107.4:c.2375C>T MANE Select	NP_742105.1:p.Ser792Phe
NM_172108.5:c.2282C>T	NP_742106.1:p.Ser761Phe
NM_001382235.1:c.2429C>T	NP_001369164.1:p.Ser810Phe