Canonical Allele Identifier: CA645608744

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2507190
• ClinVar RCV Id: RCV003239081 ; RCV003779868
• gnomAD v4: 20-63407307-CG-C
• COSMIC: COSM4694637 ; COSM4694638 ; COSM4694639

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407313del , CM000682.2:g.63407313del	GRCh38
NC_000020.10:g.62038666del , CM000682.1:g.62038666del	GRCh37
NC_000020.9:g.61509110del	NCBI36
NG_009004.1:g.70333del
NG_009004.2:g.70333del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2009del	ENSP00000516702.1:p.Pro670ArgfsTer?
ENST00000359125.7:c.1955del MANE Select	ENSP00000352035.2:p.Pro652ArgfsTer?
ENST00000637193.1:c.1352del	ENSP00000490734.1:p.Pro451ArgfsTer?
ENST00000344462.8:c.1862del	ENSP00000339611.4:p.Pro621ArgfsTer?
ENST00000357249.6:c.1523del	ENSP00000349789.3:p.Pro508ArgfsTer?
ENST00000359125.6:c.1955del	ENSP00000352035.2:p.Pro652ArgfsTer?
ENST00000360480.7:c.1871del	ENSP00000353668.3:p.Pro624ArgfsTer?
ENST00000370224.5:c.1979del	ENSP00000359244.2:p.Pro660ArgfsTer?
ENST00000625514.2:c.1943del	ENSP00000486040.1:p.Pro648ArgfsTer?
ENST00000626839.2:c.1901del	ENSP00000486706.1:p.Pro634ArgfsTer?
ENST00000629241.2:c.1871del	ENSP00000487142.1:p.Pro624ArgfsTer?
ENST00000629676.2:c.1679+6142del	ENSP00000486194.1:n.1679+6142del
NM_004518.4:c.1871del	NP_004509.2:p.Pro624ArgfsTer?
NM_172106.1:c.1901del	NP_742104.1:p.Pro634ArgfsTer?
NM_172107.2:c.1955del	NP_742105.1:p.Pro652ArgfsTer?
NM_172108.3:c.1862del	NP_742106.1:p.Pro621ArgfsTer?
XM_006723787.1:c.1997del	XP_006723850.1:p.Pro666ArgfsTer?
XM_011528807.1:c.2063del	XP_011527109.1:p.Pro688ArgfsTer?
XM_011528808.1:c.2060del	XP_011527110.1:p.Pro687ArgfsTer?
XM_011528809.1:c.2033del	XP_011527111.1:p.Pro678ArgfsTer?
XM_011528810.1:c.2009del	XP_011527112.1:p.Pro670ArgfsTer?
XM_011528811.1:c.1979del	XP_011527113.1:p.Pro660ArgfsTer?
XM_011528812.1:c.1952del	XP_011527114.1:p.Pro651ArgfsTer?
XM_011528813.1:c.1937del	XP_011527115.1:p.Pro646ArgfsTer?
XM_011528814.1:c.1544del	XP_011527116.1:p.Pro515ArgfsTer?
NM_004518.5:c.1871del	NP_004509.2:p.Pro624ArgfsTer?
NM_172106.2:c.1901del	NP_742104.1:p.Pro634ArgfsTer?
NM_172107.3:c.1955del	NP_742105.1:p.Pro652ArgfsTer?
NM_172108.4:c.1862del	NP_742106.1:p.Pro621ArgfsTer?
XM_011528810.2:c.2009del	XP_011527112.1:p.Pro670ArgfsTer?
XM_011528811.2:c.1979del	XP_011527113.1:p.Pro660ArgfsTer?
XM_017027841.2:c.2006del	XP_016883330.1:p.Pro669ArgfsTer?
XM_017027842.2:c.1943del	XP_016883331.1:p.Pro648ArgfsTer?
XM_017027843.1:c.1940del	XP_016883332.1:p.Pro647ArgfsTer?
XM_017027844.2:c.1898del	XP_016883333.1:p.Pro633ArgfsTer?
XM_017027845.1:c.971del	XP_016883334.1:p.Pro324ArgfsTer?
NM_004518.6:c.1871del	NP_004509.2:p.Pro624ArgfsTer?
NM_172106.3:c.1901del	NP_742104.1:p.Pro634ArgfsTer?
NM_172107.4:c.1955del MANE Select	NP_742105.1:p.Pro652ArgfsTer?
NM_172108.5:c.1862del	NP_742106.1:p.Pro621ArgfsTer?
NM_001382235.1:c.2009del	NP_001369164.1:p.Pro670ArgfsTer?