Canonical Allele Identifier: CA2573157181

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1453207
• ClinVar RCV Id: RCV002000181
• dbSNP Id: rs2145548219

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414158_63414161dup , CM000682.2:g.63414158_63414161dup	GRCh38
NC_000020.10:g.62045511_62045514dup , CM000682.1:g.62045511_62045514dup	GRCh37
NC_000020.9:g.61515955_61515958dup	NCBI36
NG_009004.1:g.63480_63483dup
NG_009004.2:g.63480_63483dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1504_1507dup	ENSP00000516702.1:p.Lys503ArgfsTer?
ENST00000359125.7:c.1558_1561dup MANE Select	ENSP00000352035.2:p.Lys521ArgfsTer?
ENST00000637193.1:c.955_958dup	ENSP00000490734.1:p.Lys320ArgfsTer?
ENST00000344462.8:c.1465_1468dup	ENSP00000339611.4:p.Lys490ArgfsTer?
ENST00000357249.6:c.1126_1129dup	ENSP00000349789.3:p.Lys377ArgfsTer?
ENST00000359125.6:c.1558_1561dup	ENSP00000352035.2:p.Lys521ArgfsTer?
ENST00000360480.7:c.1474_1477dup	ENSP00000353668.3:p.Lys493ArgfsTer?
ENST00000370224.5:c.1474_1477dup	ENSP00000359244.2:p.Lys493ArgfsTer?
ENST00000625514.2:c.1438_1441dup	ENSP00000486040.1:p.Lys481ArgfsTer?
ENST00000626839.2:c.1504_1507dup	ENSP00000486706.1:p.Lys503ArgfsTer?
ENST00000627221.2:c.615_618dup
ENST00000629241.2:c.1474_1477dup	ENSP00000487142.1:p.Lys493ArgfsTer?
ENST00000629318.1:c.166_169dup	ENSP00000487384.1:p.Lys57ArgfsTer?
ENST00000629676.2:c.1474_1477dup	ENSP00000486194.1:p.Lys493ArgfsTer?
NM_004518.4:c.1474_1477dup	NP_004509.2:p.Lys493ArgfsTer?
NM_172106.1:c.1504_1507dup	NP_742104.1:p.Lys503ArgfsTer?
NM_172107.2:c.1558_1561dup	NP_742105.1:p.Lys521ArgfsTer?
NM_172108.3:c.1465_1468dup	NP_742106.1:p.Lys490ArgfsTer?
XM_006723787.1:c.1558_1561dup	XP_006723850.1:p.Lys521ArgfsTer?
XM_011528807.1:c.1558_1561dup	XP_011527109.1:p.Lys521ArgfsTer?
XM_011528808.1:c.1555_1558dup	XP_011527110.1:p.Lys520ArgfsTer?
XM_011528809.1:c.1528_1531dup	XP_011527111.1:p.Lys511ArgfsTer?
XM_011528810.1:c.1504_1507dup	XP_011527112.1:p.Lys503ArgfsTer?
XM_011528811.1:c.1474_1477dup	XP_011527113.1:p.Lys493ArgfsTer?
XM_011528812.1:c.1555_1558dup	XP_011527114.1:p.Lys520ArgfsTer?
XM_011528813.1:c.1432_1435dup	XP_011527115.1:p.Lys479ArgfsTer?
XM_011528814.1:c.1039_1042dup	XP_011527116.1:p.Lys348ArgfsTer?
XM_011528815.1:c.1558_1561dup	XP_011527117.1:p.Lys521ArgfsTer?
NM_004518.5:c.1474_1477dup	NP_004509.2:p.Lys493ArgfsTer?
NM_172106.2:c.1504_1507dup	NP_742104.1:p.Lys503ArgfsTer?
NM_172107.3:c.1558_1561dup	NP_742105.1:p.Lys521ArgfsTer?
NM_172108.4:c.1465_1468dup	NP_742106.1:p.Lys490ArgfsTer?
XM_011528810.2:c.1504_1507dup	XP_011527112.1:p.Lys503ArgfsTer?
XM_011528811.2:c.1474_1477dup	XP_011527113.1:p.Lys493ArgfsTer?
XM_017027841.2:c.1501_1504dup	XP_016883330.1:p.Lys502ArgfsTer?
XM_017027842.2:c.1504_1507dup	XP_016883331.1:p.Lys503ArgfsTer?
XM_017027843.1:c.1435_1438dup	XP_016883332.1:p.Lys480ArgfsTer?
XM_017027844.2:c.1501_1504dup	XP_016883333.1:p.Lys502ArgfsTer?
XM_017027845.1:c.466_469dup	XP_016883334.1:p.Lys157ArgfsTer?
NM_004518.6:c.1474_1477dup	NP_004509.2:p.Lys493ArgfsTer?
NM_172106.3:c.1504_1507dup	NP_742104.1:p.Lys503ArgfsTer?
NM_172107.4:c.1558_1561dup MANE Select	NP_742105.1:p.Lys521ArgfsTer?
NM_172108.5:c.1465_1468dup	NP_742106.1:p.Lys490ArgfsTer?
NM_001382235.1:c.1504_1507dup	NP_001369164.1:p.Lys503ArgfsTer?