Canonical Allele Identifier: CA2653800582

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63414984-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414987del , CM000682.2:g.63414987del	GRCh38
NC_000020.10:g.62046340del , CM000682.1:g.62046340del	GRCh37
NC_000020.9:g.61516784del	NCBI36
NG_009004.1:g.62656del
NG_009004.2:g.62656del

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1389del	ENSP00000516702.1:p.Lys464ArgfsTer?
ENST00000359125.7:c.1443del MANE Select	ENSP00000352035.2:p.Lys482ArgfsTer?
ENST00000637193.1:c.840del	ENSP00000490734.1:p.Lys281ArgfsTer?
ENST00000344462.8:c.1353del	ENSP00000339611.4:p.Lys452ArgfsTer?
ENST00000357249.6:c.1011del	ENSP00000349789.3:p.Lys338ArgfsTer?
ENST00000359125.6:c.1443del	ENSP00000352035.2:p.Lys482ArgfsTer?
ENST00000360480.7:c.1359del	ENSP00000353668.3:p.Lys454ArgfsTer?
ENST00000370224.5:c.1359del	ENSP00000359244.2:p.Lys454ArgfsTer?
ENST00000625514.2:c.1323del	ENSP00000486040.1:p.Lys442ArgfsTer?
ENST00000626839.2:c.1389del	ENSP00000486706.1:p.Lys464ArgfsTer?
ENST00000627221.2:c.503del
ENST00000629241.2:c.1359del	ENSP00000487142.1:p.Lys454ArgfsTer?
ENST00000629318.1:c.51del	ENSP00000487384.1:p.Lys18ArgfsTer?
ENST00000629676.2:c.1359del	ENSP00000486194.1:p.Lys454ArgfsTer?
NM_004518.4:c.1359del	NP_004509.2:p.Lys454ArgfsTer?
NM_172106.1:c.1389del	NP_742104.1:p.Lys464ArgfsTer?
NM_172107.2:c.1443del	NP_742105.1:p.Lys482ArgfsTer?
NM_172108.3:c.1353del	NP_742106.1:p.Lys452ArgfsTer?
XM_006723787.1:c.1443del	XP_006723850.1:p.Lys482ArgfsTer?
XM_011528807.1:c.1443del	XP_011527109.1:p.Lys482ArgfsTer?
XM_011528808.1:c.1443del	XP_011527110.1:p.Lys482ArgfsTer?
XM_011528809.1:c.1413del	XP_011527111.1:p.Lys472ArgfsTer?
XM_011528810.1:c.1389del	XP_011527112.1:p.Lys464ArgfsTer?
XM_011528811.1:c.1359del	XP_011527113.1:p.Lys454ArgfsTer?
XM_011528812.1:c.1443del	XP_011527114.1:p.Lys482ArgfsTer?
XM_011528813.1:c.1317del	XP_011527115.1:p.Lys440ArgfsTer?
XM_011528814.1:c.924del	XP_011527116.1:p.Lys309ArgfsTer?
XM_011528815.1:c.1443del	XP_011527117.1:p.Lys482ArgfsTer?
NM_004518.5:c.1359del	NP_004509.2:p.Lys454ArgfsTer?
NM_172106.2:c.1389del	NP_742104.1:p.Lys464ArgfsTer?
NM_172107.3:c.1443del	NP_742105.1:p.Lys482ArgfsTer?
NM_172108.4:c.1353del	NP_742106.1:p.Lys452ArgfsTer?
XM_011528810.2:c.1389del	XP_011527112.1:p.Lys464ArgfsTer?
XM_011528811.2:c.1359del	XP_011527113.1:p.Lys454ArgfsTer?
XM_017027841.2:c.1389del	XP_016883330.1:p.Lys464ArgfsTer?
XM_017027842.2:c.1389del	XP_016883331.1:p.Lys464ArgfsTer?
XM_017027843.1:c.1320del	XP_016883332.1:p.Lys441ArgfsTer?
XM_017027844.2:c.1389del	XP_016883333.1:p.Lys464ArgfsTer?
XM_017027845.1:c.351del	XP_016883334.1:p.Lys118ArgfsTer?
NM_004518.6:c.1359del	NP_004509.2:p.Lys454ArgfsTer?
NM_172106.3:c.1389del	NP_742104.1:p.Lys464ArgfsTer?
NM_172107.4:c.1443del MANE Select	NP_742105.1:p.Lys482ArgfsTer?
NM_172108.5:c.1353del	NP_742106.1:p.Lys452ArgfsTer?
NM_001382235.1:c.1389del	NP_001369164.1:p.Lys464ArgfsTer?