Canonical Allele Identifier: CA2653804361

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63406676-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406679del , CM000682.2:g.63406679del	GRCh38
NC_000020.10:g.62038032del , CM000682.1:g.62038032del	GRCh37
NC_000020.9:g.61508476del	NCBI36
NG_009004.1:g.70964del
NG_009004.2:g.70964del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2640del	ENSP00000516702.1:p.Phe880LeufsTer?
ENST00000359125.7:c.2586del MANE Select	ENSP00000352035.2:p.Phe862LeufsTer?
ENST00000637193.1:c.1983del	ENSP00000490734.1:p.Phe661LeufsTer?
ENST00000344462.8:c.2493del	ENSP00000339611.4:p.Phe831LeufsTer?
ENST00000357249.6:c.2154del	ENSP00000349789.3:p.Phe718LeufsTer?
ENST00000359125.6:c.2586del	ENSP00000352035.2:p.Phe862LeufsTer?
ENST00000360480.7:c.2502del	ENSP00000353668.3:p.Phe834LeufsTer?
ENST00000370224.5:c.2241+369del	ENSP00000359244.2:n.2241+369del
ENST00000625514.2:c.2205+369del	ENSP00000486040.1:n.2205+369del
ENST00000626839.2:c.2532del	ENSP00000486706.1:p.Phe844LeufsTer?
ENST00000629241.2:c.2133+369del	ENSP00000487142.1:n.2133+369del
ENST00000629676.2:c.1680-5834del	ENSP00000486194.1:n.1680-5834del
NM_004518.4:c.2502del	NP_004509.2:p.Phe834LeufsTer?
NM_172106.1:c.2532del	NP_742104.1:p.Phe844LeufsTer?
NM_172107.2:c.2586del	NP_742105.1:p.Phe862LeufsTer?
NM_172108.3:c.2493del	NP_742106.1:p.Phe831LeufsTer?
XM_006723787.1:c.2628del	XP_006723850.1:p.Phe876LeufsTer?
XM_011528807.1:c.2694del	XP_011527109.1:p.Phe898LeufsTer?
XM_011528808.1:c.2691del	XP_011527110.1:p.Phe897LeufsTer?
XM_011528809.1:c.2664del	XP_011527111.1:p.Phe888LeufsTer?
XM_011528810.1:c.2640del	XP_011527112.1:p.Phe880LeufsTer?
XM_011528811.1:c.2610del	XP_011527113.1:p.Phe870LeufsTer?
XM_011528812.1:c.2583del	XP_011527114.1:p.Phe861LeufsTer?
XM_011528813.1:c.2568del	XP_011527115.1:p.Phe856LeufsTer?
XM_011528814.1:c.2175del	XP_011527116.1:p.Phe725LeufsTer?
NM_004518.5:c.2502del	NP_004509.2:p.Phe834LeufsTer?
NM_172106.2:c.2532del	NP_742104.1:p.Phe844LeufsTer?
NM_172107.3:c.2586del	NP_742105.1:p.Phe862LeufsTer?
NM_172108.4:c.2493del	NP_742106.1:p.Phe831LeufsTer?
XM_011528810.2:c.2640del	XP_011527112.1:p.Phe880LeufsTer?
XM_011528811.2:c.2610del	XP_011527113.1:p.Phe870LeufsTer?
XM_017027841.2:c.2637del	XP_016883330.1:p.Phe879LeufsTer?
XM_017027842.2:c.2574del	XP_016883331.1:p.Phe858LeufsTer?
XM_017027843.1:c.2571del	XP_016883332.1:p.Phe857LeufsTer?
XM_017027844.2:c.2529del	XP_016883333.1:p.Phe843LeufsTer?
XM_017027845.1:c.1602del	XP_016883334.1:p.Phe534LeufsTer?
NM_004518.6:c.2502del	NP_004509.2:p.Phe834LeufsTer?
NM_172106.3:c.2532del	NP_742104.1:p.Phe844LeufsTer?
NM_172107.4:c.2586del MANE Select	NP_742105.1:p.Phe862LeufsTer?
NM_172108.5:c.2493del	NP_742106.1:p.Phe831LeufsTer?
NM_001382235.1:c.2640del	NP_001369164.1:p.Phe880LeufsTer?