Canonical Allele Identifier: CA409637363

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038232T>A (hg19) ; chr20:g.63406879T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406879T>A , CM000682.2:g.63406879T>A	GRCh38
NC_000020.10:g.62038232T>A , CM000682.1:g.62038232T>A	GRCh37
NC_000020.9:g.61508676T>A	NCBI36
NG_009004.1:g.70762A>T
NG_009004.2:g.70762A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2438A>T	ENSP00000516702.1:p.His813Leu
ENST00000359125.7:c.2384A>T MANE Select	ENSP00000352035.2:p.His795Leu
ENST00000637193.1:c.1781A>T	ENSP00000490734.1:p.His594Leu
ENST00000344462.8:c.2291A>T	ENSP00000339611.4:p.His764Leu
ENST00000357249.6:c.1952A>T	ENSP00000349789.3:p.His651Leu
ENST00000359125.6:c.2384A>T	ENSP00000352035.2:p.His795Leu
ENST00000360480.7:c.2300A>T	ENSP00000353668.3:p.His767Leu
ENST00000370224.5:c.2241+167A>T	ENSP00000359244.2:n.2241+167A>T
ENST00000625514.2:c.2205+167A>T	ENSP00000486040.1:n.2205+167A>T
ENST00000626839.2:c.2330A>T	ENSP00000486706.1:p.His777Leu
ENST00000629241.2:c.2133+167A>T	ENSP00000487142.1:n.2133+167A>T
ENST00000629676.2:c.1680-6036A>T	ENSP00000486194.1:n.1680-6036A>T
NM_004518.4:c.2300A>T	NP_004509.2:p.His767Leu
NM_172106.1:c.2330A>T	NP_742104.1:p.His777Leu
NM_172107.2:c.2384A>T	NP_742105.1:p.His795Leu
NM_172108.3:c.2291A>T	NP_742106.1:p.His764Leu
XM_006723787.1:c.2426A>T	XP_006723850.1:p.His809Leu
XM_011528807.1:c.2492A>T	XP_011527109.1:p.His831Leu
XM_011528808.1:c.2489A>T	XP_011527110.1:p.His830Leu
XM_011528809.1:c.2462A>T	XP_011527111.1:p.His821Leu
XM_011528810.1:c.2438A>T	XP_011527112.1:p.His813Leu
XM_011528811.1:c.2408A>T	XP_011527113.1:p.His803Leu
XM_011528812.1:c.2381A>T	XP_011527114.1:p.His794Leu
XM_011528813.1:c.2366A>T	XP_011527115.1:p.His789Leu
XM_011528814.1:c.1973A>T	XP_011527116.1:p.His658Leu
NM_004518.5:c.2300A>T	NP_004509.2:p.His767Leu
NM_172106.2:c.2330A>T	NP_742104.1:p.His777Leu
NM_172107.3:c.2384A>T	NP_742105.1:p.His795Leu
NM_172108.4:c.2291A>T	NP_742106.1:p.His764Leu
XM_011528810.2:c.2438A>T	XP_011527112.1:p.His813Leu
XM_011528811.2:c.2408A>T	XP_011527113.1:p.His803Leu
XM_017027841.2:c.2435A>T	XP_016883330.1:p.His812Leu
XM_017027842.2:c.2372A>T	XP_016883331.1:p.His791Leu
XM_017027843.1:c.2369A>T	XP_016883332.1:p.His790Leu
XM_017027844.2:c.2327A>T	XP_016883333.1:p.His776Leu
XM_017027845.1:c.1400A>T	XP_016883334.1:p.His467Leu
NM_004518.6:c.2300A>T	NP_004509.2:p.His767Leu
NM_172106.3:c.2330A>T	NP_742104.1:p.His777Leu
NM_172107.4:c.2384A>T MANE Select	NP_742105.1:p.His795Leu
NM_172108.5:c.2291A>T	NP_742106.1:p.His764Leu
NM_001382235.1:c.2438A>T	NP_001369164.1:p.His813Leu