Canonical Allele Identifier: CA2499225799

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 1175996
• ClinVar RCV Id: RCV001531359
• dbSNP Id: rs2145483535

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406861del , CM000682.2:g.63406861del	GRCh38
NC_000020.10:g.62038214del , CM000682.1:g.62038214del	GRCh37
NC_000020.9:g.61508658del	NCBI36
NG_009004.1:g.70781del
NG_009004.2:g.70781del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2457del	ENSP00000516702.1:p.Phe820SerfsTer?
ENST00000359125.7:c.2403del MANE Select	ENSP00000352035.2:p.Phe802SerfsTer?
ENST00000637193.1:c.1800del	ENSP00000490734.1:p.Phe601SerfsTer?
ENST00000344462.8:c.2310del	ENSP00000339611.4:p.Phe771SerfsTer?
ENST00000357249.6:c.1971del	ENSP00000349789.3:p.Phe658SerfsTer?
ENST00000359125.6:c.2403del	ENSP00000352035.2:p.Phe802SerfsTer?
ENST00000360480.7:c.2319del	ENSP00000353668.3:p.Phe774SerfsTer?
ENST00000370224.5:c.2241+186del	ENSP00000359244.2:n.2241+186del
ENST00000625514.2:c.2205+186del	ENSP00000486040.1:n.2205+186del
ENST00000626839.2:c.2349del	ENSP00000486706.1:p.Phe784SerfsTer?
ENST00000629241.2:c.2133+186del	ENSP00000487142.1:n.2133+186del
ENST00000629676.2:c.1680-6017del	ENSP00000486194.1:n.1680-6017del
NM_004518.4:c.2319del	NP_004509.2:p.Phe774SerfsTer?
NM_172106.1:c.2349del	NP_742104.1:p.Phe784SerfsTer?
NM_172107.2:c.2403del	NP_742105.1:p.Phe802SerfsTer?
NM_172108.3:c.2310del	NP_742106.1:p.Phe771SerfsTer?
XM_006723787.1:c.2445del	XP_006723850.1:p.Phe816SerfsTer?
XM_011528807.1:c.2511del	XP_011527109.1:p.Phe838SerfsTer?
XM_011528808.1:c.2508del	XP_011527110.1:p.Phe837SerfsTer?
XM_011528809.1:c.2481del	XP_011527111.1:p.Phe828SerfsTer?
XM_011528810.1:c.2457del	XP_011527112.1:p.Phe820SerfsTer?
XM_011528811.1:c.2427del	XP_011527113.1:p.Phe810SerfsTer?
XM_011528812.1:c.2400del	XP_011527114.1:p.Phe801SerfsTer?
XM_011528813.1:c.2385del	XP_011527115.1:p.Phe796SerfsTer?
XM_011528814.1:c.1992del	XP_011527116.1:p.Phe665SerfsTer?
NM_004518.5:c.2319del	NP_004509.2:p.Phe774SerfsTer?
NM_172106.2:c.2349del	NP_742104.1:p.Phe784SerfsTer?
NM_172107.3:c.2403del	NP_742105.1:p.Phe802SerfsTer?
NM_172108.4:c.2310del	NP_742106.1:p.Phe771SerfsTer?
XM_011528810.2:c.2457del	XP_011527112.1:p.Phe820SerfsTer?
XM_011528811.2:c.2427del	XP_011527113.1:p.Phe810SerfsTer?
XM_017027841.2:c.2454del	XP_016883330.1:p.Phe819SerfsTer?
XM_017027842.2:c.2391del	XP_016883331.1:p.Phe798SerfsTer?
XM_017027843.1:c.2388del	XP_016883332.1:p.Phe797SerfsTer?
XM_017027844.2:c.2346del	XP_016883333.1:p.Phe783SerfsTer?
XM_017027845.1:c.1419del	XP_016883334.1:p.Phe474SerfsTer?
NM_004518.6:c.2319del	NP_004509.2:p.Phe774SerfsTer?
NM_172106.3:c.2349del	NP_742104.1:p.Phe784SerfsTer?
NM_172107.4:c.2403del MANE Select	NP_742105.1:p.Phe802SerfsTer?
NM_172108.5:c.2310del	NP_742106.1:p.Phe771SerfsTer?
NM_001382235.1:c.2457del	NP_001369164.1:p.Phe820SerfsTer?