Canonical Allele Identifier: CA10654793

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 369786
• ClinVar RCV Id: RCV000678167
• dbSNP Id: rs1057516113
• MyVariant Identifiers: chr20:g.62062715del (hg19) ; chr20:g.63431362del (hg38)
• PubMed: PMID:20437616 ; PMID:23290024

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63431364del , CM000682.2:g.63431364del	GRCh38
NC_000020.10:g.62062717del , CM000682.1:g.62062717del	GRCh37
NC_000020.9:g.61533161del	NCBI36
NG_009004.1:g.46279del
NG_009004.2:g.46279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1126del	ENSP00000516702.1:p.Thr376LeufsTer13
ENST00000359125.7:c.1126del MANE Select	ENSP00000352035.2:p.Thr376LeufsTer13
ENST00000636638.1:n.31+2084del
ENST00000637193.1:c.599+2447del	ENSP00000490734.1:n.599+2447del
ENST00000344462.8:c.1126del	ENSP00000339611.4:p.Thr376LeufsTer13
ENST00000357249.6:c.784del	ENSP00000349789.3:p.Thr262LeufsTer13
ENST00000359125.6:c.1126del	ENSP00000352035.2:p.Thr376LeufsTer13
ENST00000360480.7:c.1118+2447del	ENSP00000353668.3:n.1118+2447del
ENST00000370221.3:n.1252del
ENST00000370224.5:c.1118+2447del	ENSP00000359244.2:n.1118+2447del
ENST00000625514.2:c.1118+2447del	ENSP00000486040.1:n.1118+2447del
ENST00000626839.2:c.1126del	ENSP00000486706.1:p.Thr376LeufsTer13
ENST00000627221.2:c.262+2447del
ENST00000629241.2:c.1118+2447del	ENSP00000487142.1:n.1118+2447del
ENST00000629676.2:c.1118+2447del	ENSP00000486194.1:n.1118+2447del
NM_004518.4:c.1118+2447del	NP_004509.2:n.1118+2447del
NM_172106.1:c.1126del	NP_742104.1:p.Thr376LeufsTer13
NM_172107.2:c.1126del	NP_742105.1:p.Thr376LeufsTer13
NM_172108.3:c.1126del	NP_742106.1:p.Thr376LeufsTer13
XM_006723787.1:c.1126del	XP_006723850.1:p.Thr376LeufsTer13
XM_011528807.1:c.1126del	XP_011527109.1:p.Thr376LeufsTer13
XM_011528808.1:c.1126del	XP_011527110.1:p.Thr376LeufsTer13
XM_011528809.1:c.1118+2447del	XP_011527111.1:n.1118+2447del
XM_011528810.1:c.1126del	XP_011527112.1:p.Thr376LeufsTer13
XM_011528811.1:c.1118+2447del	XP_011527113.1:n.1118+2447del
XM_011528812.1:c.1126del	XP_011527114.1:p.Thr376LeufsTer13
XM_011528813.1:c.1000del	XP_011527115.1:p.Thr334LeufsTer13
XM_011528814.1:c.607del	XP_011527116.1:p.Thr203LeufsTer13
XM_011528815.1:c.1126del	XP_011527117.1:p.Thr376LeufsTer13
NM_004518.5:c.1118+2447del	NP_004509.2:n.1118+2447del
NM_172106.2:c.1126del	NP_742104.1:p.Thr376LeufsTer13
NM_172107.3:c.1126del	NP_742105.1:p.Thr376LeufsTer13
NM_172108.4:c.1126del	NP_742106.1:p.Thr376LeufsTer13
XM_011528810.2:c.1126del	XP_011527112.1:p.Thr376LeufsTer13
XM_011528811.2:c.1118+2447del	XP_011527113.1:n.1118+2447del
XM_017027841.2:c.1126del	XP_016883330.1:p.Thr376LeufsTer13
XM_017027842.2:c.1126del	XP_016883331.1:p.Thr376LeufsTer13
XM_017027843.1:c.1057del	XP_016883332.1:p.Thr353LeufsTer13
XM_017027844.2:c.1126del	XP_016883333.1:p.Thr376LeufsTer13
NM_004518.6:c.1118+2447del	NP_004509.2:n.1118+2447del
NM_172106.3:c.1126del	NP_742104.1:p.Thr376LeufsTer13
NM_172107.4:c.1126del MANE Select	NP_742105.1:p.Thr376LeufsTer13
NM_172108.5:c.1126del	NP_742106.1:p.Thr376LeufsTer13
NM_001382235.1:c.1126del	NP_001369164.1:p.Thr376LeufsTer13