Canonical Allele Identifier: CA658658884

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 453053
• ClinVar RCV Id: RCV000519712
• dbSNP Id: rs1555854643
• MyVariant Identifiers: chr20:g.62046408_62046424del (hg19) ; chr20:g.63415055_63415071del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63415057_63415073del , CM000682.2:g.63415057_63415073del	GRCh38
NC_000020.10:g.62046410_62046426del , CM000682.1:g.62046410_62046426del	GRCh37
NC_000020.9:g.61516854_61516870del	NCBI36
NG_009004.1:g.62570_62586del
NG_009004.2:g.62570_62586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1303_1319del	ENSP00000516702.1:p.Lys435AlafsTer?
ENST00000359125.7:c.1357_1373del MANE Select	ENSP00000352035.2:p.Lys453AlafsTer?
ENST00000637193.1:c.754_770del	ENSP00000490734.1:p.Lys252AlafsTer?
ENST00000344462.8:c.1267_1283del	ENSP00000339611.4:p.Lys423AlafsTer?
ENST00000357249.6:c.925_941del	ENSP00000349789.3:p.Lys309AlafsTer?
ENST00000359125.6:c.1357_1373del	ENSP00000352035.2:p.Lys453AlafsTer?
ENST00000360480.7:c.1273_1289del	ENSP00000353668.3:p.Lys425AlafsTer?
ENST00000370224.5:c.1273_1289del	ENSP00000359244.2:p.Lys425AlafsTer?
ENST00000625514.2:c.1237_1253del	ENSP00000486040.1:p.Lys413AlafsTer?
ENST00000626839.2:c.1303_1319del	ENSP00000486706.1:p.Lys435AlafsTer?
ENST00000627221.2:c.417_433del
ENST00000629241.2:c.1273_1289del	ENSP00000487142.1:p.Lys425AlafsTer?
ENST00000629676.2:c.1273_1289del	ENSP00000486194.1:p.Lys425AlafsTer?
NM_004518.4:c.1273_1289del	NP_004509.2:p.Lys425AlafsTer?
NM_172106.1:c.1303_1319del	NP_742104.1:p.Lys435AlafsTer?
NM_172107.2:c.1357_1373del	NP_742105.1:p.Lys453AlafsTer?
NM_172108.3:c.1267_1283del	NP_742106.1:p.Lys423AlafsTer?
XM_006723787.1:c.1357_1373del	XP_006723850.1:p.Lys453AlafsTer?
XM_011528807.1:c.1357_1373del	XP_011527109.1:p.Lys453AlafsTer?
XM_011528808.1:c.1357_1373del	XP_011527110.1:p.Lys453AlafsTer?
XM_011528809.1:c.1327_1343del	XP_011527111.1:p.Lys443AlafsTer?
XM_011528810.1:c.1303_1319del	XP_011527112.1:p.Lys435AlafsTer?
XM_011528811.1:c.1273_1289del	XP_011527113.1:p.Lys425AlafsTer?
XM_011528812.1:c.1357_1373del	XP_011527114.1:p.Lys453AlafsTer?
XM_011528813.1:c.1231_1247del	XP_011527115.1:p.Lys411AlafsTer?
XM_011528814.1:c.838_854del	XP_011527116.1:p.Lys280AlafsTer?
XM_011528815.1:c.1357_1373del	XP_011527117.1:p.Lys453AlafsTer?
NM_004518.5:c.1273_1289del	NP_004509.2:p.Lys425AlafsTer?
NM_172106.2:c.1303_1319del	NP_742104.1:p.Lys435AlafsTer?
NM_172107.3:c.1357_1373del	NP_742105.1:p.Lys453AlafsTer?
NM_172108.4:c.1267_1283del	NP_742106.1:p.Lys423AlafsTer?
XM_011528810.2:c.1303_1319del	XP_011527112.1:p.Lys435AlafsTer?
XM_011528811.2:c.1273_1289del	XP_011527113.1:p.Lys425AlafsTer?
XM_017027841.2:c.1303_1319del	XP_016883330.1:p.Lys435AlafsTer?
XM_017027842.2:c.1303_1319del	XP_016883331.1:p.Lys435AlafsTer?
XM_017027843.1:c.1234_1250del	XP_016883332.1:p.Lys412AlafsTer?
XM_017027844.2:c.1303_1319del	XP_016883333.1:p.Lys435AlafsTer?
XM_017027845.1:c.265_281del	XP_016883334.1:p.Lys89AlafsTer?
NM_004518.6:c.1273_1289del	NP_004509.2:p.Lys425AlafsTer?
NM_172106.3:c.1303_1319del	NP_742104.1:p.Lys435AlafsTer?
NM_172107.4:c.1357_1373del MANE Select	NP_742105.1:p.Lys453AlafsTer?
NM_172108.5:c.1267_1283del	NP_742106.1:p.Lys423AlafsTer?
NM_001382235.1:c.1303_1319del	NP_001369164.1:p.Lys435AlafsTer?