Canonical Allele Identifier: CA2580098397

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2000030
• ClinVar RCV Id: RCV002824222

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414186del , CM000682.2:g.63414186del	GRCh38
NC_000020.10:g.62045539del , CM000682.1:g.62045539del	GRCh37
NC_000020.9:g.61515983del	NCBI36
NG_009004.1:g.63456del
NG_009004.2:g.63456del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1480del	ENSP00000516702.1:p.Leu494SerfsTer17
ENST00000359125.7:c.1534del MANE Select	ENSP00000352035.2:p.Leu512SerfsTer17
ENST00000637193.1:c.931del	ENSP00000490734.1:p.Leu311SerfsTer17
ENST00000344462.8:c.1441del	ENSP00000339611.4:p.Leu481SerfsTer17
ENST00000357249.6:c.1102del	ENSP00000349789.3:p.Leu368SerfsTer17
ENST00000359125.6:c.1534del	ENSP00000352035.2:p.Leu512SerfsTer17
ENST00000360480.7:c.1450del	ENSP00000353668.3:p.Leu484SerfsTer17
ENST00000370224.5:c.1450del	ENSP00000359244.2:p.Leu484SerfsTer17
ENST00000625514.2:c.1414del	ENSP00000486040.1:p.Leu472SerfsTer17
ENST00000626839.2:c.1480del	ENSP00000486706.1:p.Leu494SerfsTer17
ENST00000627221.2:c.591del
ENST00000629241.2:c.1450del	ENSP00000487142.1:p.Leu484SerfsTer17
ENST00000629318.1:c.142del	ENSP00000487384.1:p.Leu48SerfsTer17
ENST00000629676.2:c.1450del	ENSP00000486194.1:p.Leu484SerfsTer17
NM_004518.4:c.1450del	NP_004509.2:p.Leu484SerfsTer17
NM_172106.1:c.1480del	NP_742104.1:p.Leu494SerfsTer17
NM_172107.2:c.1534del	NP_742105.1:p.Leu512SerfsTer17
NM_172108.3:c.1441del	NP_742106.1:p.Leu481SerfsTer17
XM_006723787.1:c.1534del	XP_006723850.1:p.Leu512SerfsTer17
XM_011528807.1:c.1534del	XP_011527109.1:p.Leu512SerfsTer17
XM_011528808.1:c.1531del	XP_011527110.1:p.Leu511SerfsTer17
XM_011528809.1:c.1504del	XP_011527111.1:p.Leu502SerfsTer17
XM_011528810.1:c.1480del	XP_011527112.1:p.Leu494SerfsTer17
XM_011528811.1:c.1450del	XP_011527113.1:p.Leu484SerfsTer17
XM_011528812.1:c.1531del	XP_011527114.1:p.Leu511SerfsTer17
XM_011528813.1:c.1408del	XP_011527115.1:p.Leu470SerfsTer17
XM_011528814.1:c.1015del	XP_011527116.1:p.Leu339SerfsTer17
XM_011528815.1:c.1534del	XP_011527117.1:p.Leu512SerfsTer17
NM_004518.5:c.1450del	NP_004509.2:p.Leu484SerfsTer17
NM_172106.2:c.1480del	NP_742104.1:p.Leu494SerfsTer17
NM_172107.3:c.1534del	NP_742105.1:p.Leu512SerfsTer17
NM_172108.4:c.1441del	NP_742106.1:p.Leu481SerfsTer17
XM_011528810.2:c.1480del	XP_011527112.1:p.Leu494SerfsTer17
XM_011528811.2:c.1450del	XP_011527113.1:p.Leu484SerfsTer17
XM_017027841.2:c.1477del	XP_016883330.1:p.Leu493SerfsTer17
XM_017027842.2:c.1480del	XP_016883331.1:p.Leu494SerfsTer17
XM_017027843.1:c.1411del	XP_016883332.1:p.Leu471SerfsTer17
XM_017027844.2:c.1477del	XP_016883333.1:p.Leu493SerfsTer17
XM_017027845.1:c.442del	XP_016883334.1:p.Leu148SerfsTer17
NM_004518.6:c.1450del	NP_004509.2:p.Leu484SerfsTer17
NM_172106.3:c.1480del	NP_742104.1:p.Leu494SerfsTer17
NM_172107.4:c.1534del MANE Select	NP_742105.1:p.Leu512SerfsTer17
NM_172108.5:c.1441del	NP_742106.1:p.Leu481SerfsTer17
NM_001382235.1:c.1480del	NP_001369164.1:p.Leu494SerfsTer17