Canonical Allele Identifier: CA2697547447

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2766621
• ClinVar RCV Id: RCV003590441

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406864del , CM000682.2:g.63406864del	GRCh38
NC_000020.10:g.62038217del , CM000682.1:g.62038217del	GRCh37
NC_000020.9:g.61508661del	NCBI36
NG_009004.1:g.70777del
NG_009004.2:g.70777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2453del	ENSP00000516702.1:p.Arg818LeufsTer?
ENST00000359125.7:c.2399del MANE Select	ENSP00000352035.2:p.Arg800LeufsTer?
ENST00000637193.1:c.1796del	ENSP00000490734.1:p.Arg599LeufsTer?
ENST00000344462.8:c.2306del	ENSP00000339611.4:p.Arg769LeufsTer?
ENST00000357249.6:c.1967del	ENSP00000349789.3:p.Arg656LeufsTer?
ENST00000359125.6:c.2399del	ENSP00000352035.2:p.Arg800LeufsTer?
ENST00000360480.7:c.2315del	ENSP00000353668.3:p.Arg772LeufsTer?
ENST00000370224.5:c.2241+182del	ENSP00000359244.2:n.2241+182del
ENST00000625514.2:c.2205+182del	ENSP00000486040.1:n.2205+182del
ENST00000626839.2:c.2345del	ENSP00000486706.1:p.Arg782LeufsTer?
ENST00000629241.2:c.2133+182del	ENSP00000487142.1:n.2133+182del
ENST00000629676.2:c.1680-6021del	ENSP00000486194.1:n.1680-6021del
NM_004518.4:c.2315del	NP_004509.2:p.Arg772LeufsTer?
NM_172106.1:c.2345del	NP_742104.1:p.Arg782LeufsTer?
NM_172107.2:c.2399del	NP_742105.1:p.Arg800LeufsTer?
NM_172108.3:c.2306del	NP_742106.1:p.Arg769LeufsTer?
XM_006723787.1:c.2441del	XP_006723850.1:p.Arg814LeufsTer?
XM_011528807.1:c.2507del	XP_011527109.1:p.Arg836LeufsTer?
XM_011528808.1:c.2504del	XP_011527110.1:p.Arg835LeufsTer?
XM_011528809.1:c.2477del	XP_011527111.1:p.Arg826LeufsTer?
XM_011528810.1:c.2453del	XP_011527112.1:p.Arg818LeufsTer?
XM_011528811.1:c.2423del	XP_011527113.1:p.Arg808LeufsTer?
XM_011528812.1:c.2396del	XP_011527114.1:p.Arg799LeufsTer?
XM_011528813.1:c.2381del	XP_011527115.1:p.Arg794LeufsTer?
XM_011528814.1:c.1988del	XP_011527116.1:p.Arg663LeufsTer?
NM_004518.5:c.2315del	NP_004509.2:p.Arg772LeufsTer?
NM_172106.2:c.2345del	NP_742104.1:p.Arg782LeufsTer?
NM_172107.3:c.2399del	NP_742105.1:p.Arg800LeufsTer?
NM_172108.4:c.2306del	NP_742106.1:p.Arg769LeufsTer?
XM_011528810.2:c.2453del	XP_011527112.1:p.Arg818LeufsTer?
XM_011528811.2:c.2423del	XP_011527113.1:p.Arg808LeufsTer?
XM_017027841.2:c.2450del	XP_016883330.1:p.Arg817LeufsTer?
XM_017027842.2:c.2387del	XP_016883331.1:p.Arg796LeufsTer?
XM_017027843.1:c.2384del	XP_016883332.1:p.Arg795LeufsTer?
XM_017027844.2:c.2342del	XP_016883333.1:p.Arg781LeufsTer?
XM_017027845.1:c.1415del	XP_016883334.1:p.Arg472LeufsTer?
NM_004518.6:c.2315del	NP_004509.2:p.Arg772LeufsTer?
NM_172106.3:c.2345del	NP_742104.1:p.Arg782LeufsTer?
NM_172107.4:c.2399del MANE Select	NP_742105.1:p.Arg800LeufsTer?
NM_172108.5:c.2306del	NP_742106.1:p.Arg769LeufsTer?
NM_001382235.1:c.2453del	NP_001369164.1:p.Arg818LeufsTer?