Canonical Allele Identifier: CA16620963

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 420760
• ClinVar RCV Id: RCV000485046
• dbSNP Id: rs1064794686
• MyVariant Identifiers: chr20:g.62045533del (hg19) ; chr20:g.63414180del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414183del , CM000682.2:g.63414183del	GRCh38
NC_000020.10:g.62045536del , CM000682.1:g.62045536del	GRCh37
NC_000020.9:g.61515980del	NCBI36
NG_009004.1:g.63461del
NG_009004.2:g.63461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1485del	ENSP00000516702.1:p.Gly496GlufsTer15
ENST00000359125.7:c.1539del MANE Select	ENSP00000352035.2:p.Gly514GlufsTer15
ENST00000637193.1:c.936del	ENSP00000490734.1:p.Gly313GlufsTer15
ENST00000344462.8:c.1446del	ENSP00000339611.4:p.Gly483GlufsTer15
ENST00000357249.6:c.1107del	ENSP00000349789.3:p.Gly370GlufsTer15
ENST00000359125.6:c.1539del	ENSP00000352035.2:p.Gly514GlufsTer15
ENST00000360480.7:c.1455del	ENSP00000353668.3:p.Gly486GlufsTer15
ENST00000370224.5:c.1455del	ENSP00000359244.2:p.Gly486GlufsTer15
ENST00000625514.2:c.1419del	ENSP00000486040.1:p.Gly474GlufsTer15
ENST00000626839.2:c.1485del	ENSP00000486706.1:p.Gly496GlufsTer15
ENST00000627221.2:c.596del
ENST00000629241.2:c.1455del	ENSP00000487142.1:p.Gly486GlufsTer15
ENST00000629318.1:c.147del	ENSP00000487384.1:p.Gly50GlufsTer15
ENST00000629676.2:c.1455del	ENSP00000486194.1:p.Gly486GlufsTer15
NM_004518.4:c.1455del	NP_004509.2:p.Gly486GlufsTer15
NM_172106.1:c.1485del	NP_742104.1:p.Gly496GlufsTer15
NM_172107.2:c.1539del	NP_742105.1:p.Gly514GlufsTer15
NM_172108.3:c.1446del	NP_742106.1:p.Gly483GlufsTer15
XM_006723787.1:c.1539del	XP_006723850.1:p.Gly514GlufsTer15
XM_011528807.1:c.1539del	XP_011527109.1:p.Gly514GlufsTer15
XM_011528808.1:c.1536del	XP_011527110.1:p.Gly513GlufsTer15
XM_011528809.1:c.1509del	XP_011527111.1:p.Gly504GlufsTer15
XM_011528810.1:c.1485del	XP_011527112.1:p.Gly496GlufsTer15
XM_011528811.1:c.1455del	XP_011527113.1:p.Gly486GlufsTer15
XM_011528812.1:c.1536del	XP_011527114.1:p.Gly513GlufsTer15
XM_011528813.1:c.1413del	XP_011527115.1:p.Gly472GlufsTer15
XM_011528814.1:c.1020del	XP_011527116.1:p.Gly341GlufsTer15
XM_011528815.1:c.1539del	XP_011527117.1:p.Gly514GlufsTer15
NM_004518.5:c.1455del	NP_004509.2:p.Gly486GlufsTer15
NM_172106.2:c.1485del	NP_742104.1:p.Gly496GlufsTer15
NM_172107.3:c.1539del	NP_742105.1:p.Gly514GlufsTer15
NM_172108.4:c.1446del	NP_742106.1:p.Gly483GlufsTer15
XM_011528810.2:c.1485del	XP_011527112.1:p.Gly496GlufsTer15
XM_011528811.2:c.1455del	XP_011527113.1:p.Gly486GlufsTer15
XM_017027841.2:c.1482del	XP_016883330.1:p.Gly495GlufsTer15
XM_017027842.2:c.1485del	XP_016883331.1:p.Gly496GlufsTer15
XM_017027843.1:c.1416del	XP_016883332.1:p.Gly473GlufsTer15
XM_017027844.2:c.1482del	XP_016883333.1:p.Gly495GlufsTer15
XM_017027845.1:c.447del	XP_016883334.1:p.Gly150GlufsTer15
NM_004518.6:c.1455del	NP_004509.2:p.Gly486GlufsTer15
NM_172106.3:c.1485del	NP_742104.1:p.Gly496GlufsTer15
NM_172107.4:c.1539del MANE Select	NP_742105.1:p.Gly514GlufsTer15
NM_172108.5:c.1446del	NP_742106.1:p.Gly483GlufsTer15
NM_001382235.1:c.1485del	NP_001369164.1:p.Gly496GlufsTer15