Canonical Allele Identifier: CA658658882

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 461416
• ClinVar RCV Id: RCV000543835
• dbSNP Id: rs1555850590
• MyVariant Identifiers: chr20:g.62038338del (hg19) ; chr20:g.63406985del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406986del , CM000682.2:g.63406986del	GRCh38
NC_000020.10:g.62038339del , CM000682.1:g.62038339del	GRCh37
NC_000020.9:g.61508783del	NCBI36
NG_009004.1:g.70656del
NG_009004.2:g.70656del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2332del	ENSP00000516702.1:p.Arg778AlafsTer?
ENST00000359125.7:c.2278del MANE Select	ENSP00000352035.2:p.Arg760AlafsTer?
ENST00000637193.1:c.1675del	ENSP00000490734.1:p.Arg559AlafsTer?
ENST00000344462.8:c.2185del	ENSP00000339611.4:p.Arg729AlafsTer?
ENST00000357249.6:c.1846del	ENSP00000349789.3:p.Arg616AlafsTer?
ENST00000359125.6:c.2278del	ENSP00000352035.2:p.Arg760AlafsTer?
ENST00000360480.7:c.2194del	ENSP00000353668.3:p.Arg732AlafsTer?
ENST00000370224.5:c.2241+61del	ENSP00000359244.2:n.2241+61del
ENST00000625514.2:c.2205+61del	ENSP00000486040.1:n.2205+61del
ENST00000626839.2:c.2224del	ENSP00000486706.1:p.Arg742AlafsTer?
ENST00000629241.2:c.2133+61del	ENSP00000487142.1:n.2133+61del
ENST00000629676.2:c.1680-6142del	ENSP00000486194.1:n.1680-6142del
NM_004518.4:c.2194del	NP_004509.2:p.Arg732AlafsTer?
NM_172106.1:c.2224del	NP_742104.1:p.Arg742AlafsTer?
NM_172107.2:c.2278del	NP_742105.1:p.Arg760AlafsTer?
NM_172108.3:c.2185del	NP_742106.1:p.Arg729AlafsTer?
XM_006723787.1:c.2320del	XP_006723850.1:p.Arg774AlafsTer?
XM_011528807.1:c.2386del	XP_011527109.1:p.Arg796AlafsTer?
XM_011528808.1:c.2383del	XP_011527110.1:p.Arg795AlafsTer?
XM_011528809.1:c.2356del	XP_011527111.1:p.Arg786AlafsTer?
XM_011528810.1:c.2332del	XP_011527112.1:p.Arg778AlafsTer?
XM_011528811.1:c.2302del	XP_011527113.1:p.Arg768AlafsTer?
XM_011528812.1:c.2275del	XP_011527114.1:p.Arg759AlafsTer?
XM_011528813.1:c.2260del	XP_011527115.1:p.Arg754AlafsTer?
XM_011528814.1:c.1867del	XP_011527116.1:p.Arg623AlafsTer?
NM_004518.5:c.2194del	NP_004509.2:p.Arg732AlafsTer?
NM_172106.2:c.2224del	NP_742104.1:p.Arg742AlafsTer?
NM_172107.3:c.2278del	NP_742105.1:p.Arg760AlafsTer?
NM_172108.4:c.2185del	NP_742106.1:p.Arg729AlafsTer?
XM_011528810.2:c.2332del	XP_011527112.1:p.Arg778AlafsTer?
XM_011528811.2:c.2302del	XP_011527113.1:p.Arg768AlafsTer?
XM_017027841.2:c.2329del	XP_016883330.1:p.Arg777AlafsTer?
XM_017027842.2:c.2266del	XP_016883331.1:p.Arg756AlafsTer?
XM_017027843.1:c.2263del	XP_016883332.1:p.Arg755AlafsTer?
XM_017027844.2:c.2221del	XP_016883333.1:p.Arg741AlafsTer?
XM_017027845.1:c.1294del	XP_016883334.1:p.Arg432AlafsTer?
NM_004518.6:c.2194del	NP_004509.2:p.Arg732AlafsTer?
NM_172106.3:c.2224del	NP_742104.1:p.Arg742AlafsTer?
NM_172107.4:c.2278del MANE Select	NP_742105.1:p.Arg760AlafsTer?
NM_172108.5:c.2185del	NP_742106.1:p.Arg729AlafsTer?
NM_001382235.1:c.2332del	NP_001369164.1:p.Arg778AlafsTer?