Canonical Allele Identifier: CA409637606

Gene: KCNQ2

Linked Data

• dbSNP Id: rs1382948890
• gnomAD v2: 20-62038267-G-T
• gnomAD v4: 20-63406914-G-T
• MyVariant Identifiers: chr20:g.62038267G>T (hg19) ; chr20:g.63406914G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406914G>T , CM000682.2:g.63406914G>T	GRCh38
NC_000020.10:g.62038267G>T , CM000682.1:g.62038267G>T	GRCh37
NC_000020.9:g.61508711G>T	NCBI36
NG_009004.1:g.70727C>A
NG_009004.2:g.70727C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2403C>A	ENSP00000516702.1:p.Asp801Glu
ENST00000359125.7:c.2349C>A MANE Select	ENSP00000352035.2:p.Asp783Glu
ENST00000637193.1:c.1746C>A	ENSP00000490734.1:p.Asp582Glu
ENST00000344462.8:c.2256C>A	ENSP00000339611.4:p.Asp752Glu
ENST00000357249.6:c.1917C>A	ENSP00000349789.3:p.Asp639Glu
ENST00000359125.6:c.2349C>A	ENSP00000352035.2:p.Asp783Glu
ENST00000360480.7:c.2265C>A	ENSP00000353668.3:p.Asp755Glu
ENST00000370224.5:c.2241+132C>A	ENSP00000359244.2:n.2241+132C>A
ENST00000625514.2:c.2205+132C>A	ENSP00000486040.1:n.2205+132C>A
ENST00000626839.2:c.2295C>A	ENSP00000486706.1:p.Asp765Glu
ENST00000629241.2:c.2133+132C>A	ENSP00000487142.1:n.2133+132C>A
ENST00000629676.2:c.1680-6071C>A	ENSP00000486194.1:n.1680-6071C>A
NM_004518.4:c.2265C>A	NP_004509.2:p.Asp755Glu
NM_172106.1:c.2295C>A	NP_742104.1:p.Asp765Glu
NM_172107.2:c.2349C>A	NP_742105.1:p.Asp783Glu
NM_172108.3:c.2256C>A	NP_742106.1:p.Asp752Glu
XM_006723787.1:c.2391C>A	XP_006723850.1:p.Asp797Glu
XM_011528807.1:c.2457C>A	XP_011527109.1:p.Asp819Glu
XM_011528808.1:c.2454C>A	XP_011527110.1:p.Asp818Glu
XM_011528809.1:c.2427C>A	XP_011527111.1:p.Asp809Glu
XM_011528810.1:c.2403C>A	XP_011527112.1:p.Asp801Glu
XM_011528811.1:c.2373C>A	XP_011527113.1:p.Asp791Glu
XM_011528812.1:c.2346C>A	XP_011527114.1:p.Asp782Glu
XM_011528813.1:c.2331C>A	XP_011527115.1:p.Asp777Glu
XM_011528814.1:c.1938C>A	XP_011527116.1:p.Asp646Glu
NM_004518.5:c.2265C>A	NP_004509.2:p.Asp755Glu
NM_172106.2:c.2295C>A	NP_742104.1:p.Asp765Glu
NM_172107.3:c.2349C>A	NP_742105.1:p.Asp783Glu
NM_172108.4:c.2256C>A	NP_742106.1:p.Asp752Glu
XM_011528810.2:c.2403C>A	XP_011527112.1:p.Asp801Glu
XM_011528811.2:c.2373C>A	XP_011527113.1:p.Asp791Glu
XM_017027841.2:c.2400C>A	XP_016883330.1:p.Asp800Glu
XM_017027842.2:c.2337C>A	XP_016883331.1:p.Asp779Glu
XM_017027843.1:c.2334C>A	XP_016883332.1:p.Asp778Glu
XM_017027844.2:c.2292C>A	XP_016883333.1:p.Asp764Glu
XM_017027845.1:c.1365C>A	XP_016883334.1:p.Asp455Glu
NM_004518.6:c.2265C>A	NP_004509.2:p.Asp755Glu
NM_172106.3:c.2295C>A	NP_742104.1:p.Asp765Glu
NM_172107.4:c.2349C>A MANE Select	NP_742105.1:p.Asp783Glu
NM_172108.5:c.2256C>A	NP_742106.1:p.Asp752Glu
NM_001382235.1:c.2403C>A	NP_001369164.1:p.Asp801Glu