Canonical Allele Identifier: CA288922

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 129332
• ClinVar RCV Id: RCV000117335 ; RCV000233438 ; RCV001704024 ; RCV002313894 ; RCV004529969
• dbSNP Id: rs146492238
• ExAC: 20:62046433 C / T
• gnomAD v2: 20-62046433-C-T
• gnomAD v3: 20-63415080-C-T
• gnomAD v4: 20-63415080-C-T
• MyVariant Identifiers: chr20:g.62046433C>T (hg19) ; chr20:g.63415080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415080C>T , CM000682.2:g.63415080C>T	GRCh38
NC_000020.10:g.62046433C>T , CM000682.1:g.62046433C>T	GRCh37
NC_000020.9:g.61516877C>T	NCBI36
NG_009004.1:g.62561G>A
NG_009004.2:g.62561G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1294G>A	ENSP00000516702.1:p.Val432Met
ENST00000359125.7:c.1348G>A MANE Select	ENSP00000352035.2:p.Val450Met
ENST00000637193.1:c.745G>A	ENSP00000490734.1:p.Val249Met
ENST00000637584.1:n.85G>A
ENST00000344462.8:c.1258G>A	ENSP00000339611.4:p.Val420Met
ENST00000357249.6:c.916G>A	ENSP00000349789.3:p.Val306Met
ENST00000359125.6:c.1348G>A	ENSP00000352035.2:p.Val450Met
ENST00000360480.7:c.1264G>A	ENSP00000353668.3:p.Val422Met
ENST00000370224.5:c.1264G>A	ENSP00000359244.2:p.Val422Met
ENST00000625514.2:c.1228G>A	ENSP00000486040.1:p.Val410Met
ENST00000626839.2:c.1294G>A	ENSP00000486706.1:p.Val432Met
ENST00000627221.2:c.408G>A
ENST00000629241.2:c.1264G>A	ENSP00000487142.1:p.Val422Met
ENST00000629676.2:c.1264G>A	ENSP00000486194.1:p.Val422Met
NM_004518.4:c.1264G>A	NP_004509.2:p.Val422Met
NM_172106.1:c.1294G>A	NP_742104.1:p.Val432Met
NM_172107.2:c.1348G>A	NP_742105.1:p.Val450Met
NM_172108.3:c.1258G>A	NP_742106.1:p.Val420Met
XM_006723787.1:c.1348G>A	XP_006723850.1:p.Val450Met
XM_011528807.1:c.1348G>A	XP_011527109.1:p.Val450Met
XM_011528808.1:c.1348G>A	XP_011527110.1:p.Val450Met
XM_011528809.1:c.1318G>A	XP_011527111.1:p.Val440Met
XM_011528810.1:c.1294G>A	XP_011527112.1:p.Val432Met
XM_011528811.1:c.1264G>A	XP_011527113.1:p.Val422Met
XM_011528812.1:c.1348G>A	XP_011527114.1:p.Val450Met
XM_011528813.1:c.1222G>A	XP_011527115.1:p.Val408Met
XM_011528814.1:c.829G>A	XP_011527116.1:p.Val277Met
XM_011528815.1:c.1348G>A	XP_011527117.1:p.Val450Met
NM_004518.5:c.1264G>A	NP_004509.2:p.Val422Met
NM_172106.2:c.1294G>A	NP_742104.1:p.Val432Met
NM_172107.3:c.1348G>A	NP_742105.1:p.Val450Met
NM_172108.4:c.1258G>A	NP_742106.1:p.Val420Met
XM_011528810.2:c.1294G>A	XP_011527112.1:p.Val432Met
XM_011528811.2:c.1264G>A	XP_011527113.1:p.Val422Met
XM_017027841.2:c.1294G>A	XP_016883330.1:p.Val432Met
XM_017027842.2:c.1294G>A	XP_016883331.1:p.Val432Met
XM_017027843.1:c.1225G>A	XP_016883332.1:p.Val409Met
XM_017027844.2:c.1294G>A	XP_016883333.1:p.Val432Met
XM_017027845.1:c.256G>A	XP_016883334.1:p.Val86Met
NM_004518.6:c.1264G>A	NP_004509.2:p.Val422Met
NM_172106.3:c.1294G>A	NP_742104.1:p.Val432Met
NM_172107.4:c.1348G>A MANE Select	NP_742105.1:p.Val450Met
NM_172108.5:c.1258G>A	NP_742106.1:p.Val420Met
NM_001382235.1:c.1294G>A	NP_001369164.1:p.Val432Met