Canonical Allele Identifier: CA409637047

Gene: KCNQ2

Linked Data

• MyVariant Identifiers: chr20:g.62038171A>T (hg19) ; chr20:g.63406818A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406818A>T , CM000682.2:g.63406818A>T	GRCh38
NC_000020.10:g.62038171A>T , CM000682.1:g.62038171A>T	GRCh37
NC_000020.9:g.61508615A>T	NCBI36
NG_009004.1:g.70823T>A
NG_009004.2:g.70823T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2499T>A	ENSP00000516702.1:p.Asp833Glu
ENST00000359125.7:c.2445T>A MANE Select	ENSP00000352035.2:p.Asp815Glu
ENST00000637193.1:c.1842T>A	ENSP00000490734.1:p.Asp614Glu
ENST00000344462.8:c.2352T>A	ENSP00000339611.4:p.Asp784Glu
ENST00000357249.6:c.2013T>A	ENSP00000349789.3:p.Asp671Glu
ENST00000359125.6:c.2445T>A	ENSP00000352035.2:p.Asp815Glu
ENST00000360480.7:c.2361T>A	ENSP00000353668.3:p.Asp787Glu
ENST00000370224.5:c.2241+228T>A	ENSP00000359244.2:n.2241+228T>A
ENST00000625514.2:c.2205+228T>A	ENSP00000486040.1:n.2205+228T>A
ENST00000626839.2:c.2391T>A	ENSP00000486706.1:p.Asp797Glu
ENST00000629241.2:c.2133+228T>A	ENSP00000487142.1:n.2133+228T>A
ENST00000629676.2:c.1680-5975T>A	ENSP00000486194.1:n.1680-5975T>A
NM_004518.4:c.2361T>A	NP_004509.2:p.Asp787Glu
NM_172106.1:c.2391T>A	NP_742104.1:p.Asp797Glu
NM_172107.2:c.2445T>A	NP_742105.1:p.Asp815Glu
NM_172108.3:c.2352T>A	NP_742106.1:p.Asp784Glu
XM_006723787.1:c.2487T>A	XP_006723850.1:p.Asp829Glu
XM_011528807.1:c.2553T>A	XP_011527109.1:p.Asp851Glu
XM_011528808.1:c.2550T>A	XP_011527110.1:p.Asp850Glu
XM_011528809.1:c.2523T>A	XP_011527111.1:p.Asp841Glu
XM_011528810.1:c.2499T>A	XP_011527112.1:p.Asp833Glu
XM_011528811.1:c.2469T>A	XP_011527113.1:p.Asp823Glu
XM_011528812.1:c.2442T>A	XP_011527114.1:p.Asp814Glu
XM_011528813.1:c.2427T>A	XP_011527115.1:p.Asp809Glu
XM_011528814.1:c.2034T>A	XP_011527116.1:p.Asp678Glu
NM_004518.5:c.2361T>A	NP_004509.2:p.Asp787Glu
NM_172106.2:c.2391T>A	NP_742104.1:p.Asp797Glu
NM_172107.3:c.2445T>A	NP_742105.1:p.Asp815Glu
NM_172108.4:c.2352T>A	NP_742106.1:p.Asp784Glu
XM_011528810.2:c.2499T>A	XP_011527112.1:p.Asp833Glu
XM_011528811.2:c.2469T>A	XP_011527113.1:p.Asp823Glu
XM_017027841.2:c.2496T>A	XP_016883330.1:p.Asp832Glu
XM_017027842.2:c.2433T>A	XP_016883331.1:p.Asp811Glu
XM_017027843.1:c.2430T>A	XP_016883332.1:p.Asp810Glu
XM_017027844.2:c.2388T>A	XP_016883333.1:p.Asp796Glu
XM_017027845.1:c.1461T>A	XP_016883334.1:p.Asp487Glu
NM_004518.6:c.2361T>A	NP_004509.2:p.Asp787Glu
NM_172106.3:c.2391T>A	NP_742104.1:p.Asp797Glu
NM_172107.4:c.2445T>A MANE Select	NP_742105.1:p.Asp815Glu
NM_172108.5:c.2352T>A	NP_742106.1:p.Asp784Glu
NM_001382235.1:c.2499T>A	NP_001369164.1:p.Asp833Glu