Canonical Allele Identifier: CA409637403

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038238A>T (hg19) ; chr20:g.63406885A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406885A>T , CM000682.2:g.63406885A>T	GRCh38
NC_000020.10:g.62038238A>T , CM000682.1:g.62038238A>T	GRCh37
NC_000020.9:g.61508682A>T	NCBI36
NG_009004.1:g.70756T>A
NG_009004.2:g.70756T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2432T>A	ENSP00000516702.1:p.Val811Glu
ENST00000359125.7:c.2378T>A MANE Select	ENSP00000352035.2:p.Val793Glu
ENST00000637193.1:c.1775T>A	ENSP00000490734.1:p.Val592Glu
ENST00000344462.8:c.2285T>A	ENSP00000339611.4:p.Val762Glu
ENST00000357249.6:c.1946T>A	ENSP00000349789.3:p.Val649Glu
ENST00000359125.6:c.2378T>A	ENSP00000352035.2:p.Val793Glu
ENST00000360480.7:c.2294T>A	ENSP00000353668.3:p.Val765Glu
ENST00000370224.5:c.2241+161T>A	ENSP00000359244.2:n.2241+161T>A
ENST00000625514.2:c.2205+161T>A	ENSP00000486040.1:n.2205+161T>A
ENST00000626839.2:c.2324T>A	ENSP00000486706.1:p.Val775Glu
ENST00000629241.2:c.2133+161T>A	ENSP00000487142.1:n.2133+161T>A
ENST00000629676.2:c.1680-6042T>A	ENSP00000486194.1:n.1680-6042T>A
NM_004518.4:c.2294T>A	NP_004509.2:p.Val765Glu
NM_172106.1:c.2324T>A	NP_742104.1:p.Val775Glu
NM_172107.2:c.2378T>A	NP_742105.1:p.Val793Glu
NM_172108.3:c.2285T>A	NP_742106.1:p.Val762Glu
XM_006723787.1:c.2420T>A	XP_006723850.1:p.Val807Glu
XM_011528807.1:c.2486T>A	XP_011527109.1:p.Val829Glu
XM_011528808.1:c.2483T>A	XP_011527110.1:p.Val828Glu
XM_011528809.1:c.2456T>A	XP_011527111.1:p.Val819Glu
XM_011528810.1:c.2432T>A	XP_011527112.1:p.Val811Glu
XM_011528811.1:c.2402T>A	XP_011527113.1:p.Val801Glu
XM_011528812.1:c.2375T>A	XP_011527114.1:p.Val792Glu
XM_011528813.1:c.2360T>A	XP_011527115.1:p.Val787Glu
XM_011528814.1:c.1967T>A	XP_011527116.1:p.Val656Glu
NM_004518.5:c.2294T>A	NP_004509.2:p.Val765Glu
NM_172106.2:c.2324T>A	NP_742104.1:p.Val775Glu
NM_172107.3:c.2378T>A	NP_742105.1:p.Val793Glu
NM_172108.4:c.2285T>A	NP_742106.1:p.Val762Glu
XM_011528810.2:c.2432T>A	XP_011527112.1:p.Val811Glu
XM_011528811.2:c.2402T>A	XP_011527113.1:p.Val801Glu
XM_017027841.2:c.2429T>A	XP_016883330.1:p.Val810Glu
XM_017027842.2:c.2366T>A	XP_016883331.1:p.Val789Glu
XM_017027843.1:c.2363T>A	XP_016883332.1:p.Val788Glu
XM_017027844.2:c.2321T>A	XP_016883333.1:p.Val774Glu
XM_017027845.1:c.1394T>A	XP_016883334.1:p.Val465Glu
NM_004518.6:c.2294T>A	NP_004509.2:p.Val765Glu
NM_172106.3:c.2324T>A	NP_742104.1:p.Val775Glu
NM_172107.4:c.2378T>A MANE Select	NP_742105.1:p.Val793Glu
NM_172108.5:c.2285T>A	NP_742106.1:p.Val762Glu
NM_001382235.1:c.2432T>A	NP_001369164.1:p.Val811Glu