Canonical Allele Identifier: CA2580098412

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2012783
• ClinVar RCV Id: RCV002843367

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407023del , CM000682.2:g.63407023del	GRCh38
NC_000020.10:g.62038376del , CM000682.1:g.62038376del	GRCh37
NC_000020.9:g.61508820del	NCBI36
NG_009004.1:g.70620del
NG_009004.2:g.70620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2296del	ENSP00000516702.1:p.His766ThrfsTer?
ENST00000359125.7:c.2242del MANE Select	ENSP00000352035.2:p.His748ThrfsTer?
ENST00000637193.1:c.1639del	ENSP00000490734.1:p.His547ThrfsTer?
ENST00000344462.8:c.2149del	ENSP00000339611.4:p.His717ThrfsTer?
ENST00000357249.6:c.1810del	ENSP00000349789.3:p.His604ThrfsTer?
ENST00000359125.6:c.2242del	ENSP00000352035.2:p.His748ThrfsTer?
ENST00000360480.7:c.2158del	ENSP00000353668.3:p.His720ThrfsTer?
ENST00000370224.5:c.2241+25del	ENSP00000359244.2:n.2241+25del
ENST00000625514.2:c.2205+25del	ENSP00000486040.1:n.2205+25del
ENST00000626839.2:c.2188del	ENSP00000486706.1:p.His730ThrfsTer?
ENST00000629241.2:c.2133+25del	ENSP00000487142.1:n.2133+25del
ENST00000629676.2:c.1680-6178del	ENSP00000486194.1:n.1680-6178del
NM_004518.4:c.2158del	NP_004509.2:p.His720ThrfsTer?
NM_172106.1:c.2188del	NP_742104.1:p.His730ThrfsTer?
NM_172107.2:c.2242del	NP_742105.1:p.His748ThrfsTer?
NM_172108.3:c.2149del	NP_742106.1:p.His717ThrfsTer?
XM_006723787.1:c.2284del	XP_006723850.1:p.His762ThrfsTer?
XM_011528807.1:c.2350del	XP_011527109.1:p.His784ThrfsTer?
XM_011528808.1:c.2347del	XP_011527110.1:p.His783ThrfsTer?
XM_011528809.1:c.2320del	XP_011527111.1:p.His774ThrfsTer?
XM_011528810.1:c.2296del	XP_011527112.1:p.His766ThrfsTer?
XM_011528811.1:c.2266del	XP_011527113.1:p.His756ThrfsTer?
XM_011528812.1:c.2239del	XP_011527114.1:p.His747ThrfsTer?
XM_011528813.1:c.2224del	XP_011527115.1:p.His742ThrfsTer?
XM_011528814.1:c.1831del	XP_011527116.1:p.His611ThrfsTer?
NM_004518.5:c.2158del	NP_004509.2:p.His720ThrfsTer?
NM_172106.2:c.2188del	NP_742104.1:p.His730ThrfsTer?
NM_172107.3:c.2242del	NP_742105.1:p.His748ThrfsTer?
NM_172108.4:c.2149del	NP_742106.1:p.His717ThrfsTer?
XM_011528810.2:c.2296del	XP_011527112.1:p.His766ThrfsTer?
XM_011528811.2:c.2266del	XP_011527113.1:p.His756ThrfsTer?
XM_017027841.2:c.2293del	XP_016883330.1:p.His765ThrfsTer?
XM_017027842.2:c.2230del	XP_016883331.1:p.His744ThrfsTer?
XM_017027843.1:c.2227del	XP_016883332.1:p.His743ThrfsTer?
XM_017027844.2:c.2185del	XP_016883333.1:p.His729ThrfsTer?
XM_017027845.1:c.1258del	XP_016883334.1:p.His420ThrfsTer?
NM_004518.6:c.2158del	NP_004509.2:p.His720ThrfsTer?
NM_172106.3:c.2188del	NP_742104.1:p.His730ThrfsTer?
NM_172107.4:c.2242del MANE Select	NP_742105.1:p.His748ThrfsTer?
NM_172108.5:c.2149del	NP_742106.1:p.His717ThrfsTer?
NM_001382235.1:c.2296del	NP_001369164.1:p.His766ThrfsTer?