Canonical Allele Identifier: CA1139666803

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 995954
• ClinVar RCV Id: RCV001290204 ; RCV003753172
• dbSNP Id: rs2079959227
• gnomAD v4: 20-63406947-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406951del , CM000682.2:g.63406951del	GRCh38
NC_000020.10:g.62038304del , CM000682.1:g.62038304del	GRCh37
NC_000020.9:g.61508748del	NCBI36
NG_009004.1:g.70693del
NG_009004.2:g.70693del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2369del	ENSP00000516702.1:p.Pro790ArgfsTer?
ENST00000359125.7:c.2315del MANE Select	ENSP00000352035.2:p.Pro772ArgfsTer?
ENST00000637193.1:c.1712del	ENSP00000490734.1:p.Pro571ArgfsTer?
ENST00000344462.8:c.2222del	ENSP00000339611.4:p.Pro741ArgfsTer?
ENST00000357249.6:c.1883del	ENSP00000349789.3:p.Pro628ArgfsTer?
ENST00000359125.6:c.2315del	ENSP00000352035.2:p.Pro772ArgfsTer?
ENST00000360480.7:c.2231del	ENSP00000353668.3:p.Pro744ArgfsTer?
ENST00000370224.5:c.2241+98del	ENSP00000359244.2:n.2241+98del
ENST00000625514.2:c.2205+98del	ENSP00000486040.1:n.2205+98del
ENST00000626839.2:c.2261del	ENSP00000486706.1:p.Pro754ArgfsTer?
ENST00000629241.2:c.2133+98del	ENSP00000487142.1:n.2133+98del
ENST00000629676.2:c.1680-6105del	ENSP00000486194.1:n.1680-6105del
NM_004518.4:c.2231del	NP_004509.2:p.Pro744ArgfsTer?
NM_172106.1:c.2261del	NP_742104.1:p.Pro754ArgfsTer?
NM_172107.2:c.2315del	NP_742105.1:p.Pro772ArgfsTer?
NM_172108.3:c.2222del	NP_742106.1:p.Pro741ArgfsTer?
XM_006723787.1:c.2357del	XP_006723850.1:p.Pro786ArgfsTer?
XM_011528807.1:c.2423del	XP_011527109.1:p.Pro808ArgfsTer?
XM_011528808.1:c.2420del	XP_011527110.1:p.Pro807ArgfsTer?
XM_011528809.1:c.2393del	XP_011527111.1:p.Pro798ArgfsTer?
XM_011528810.1:c.2369del	XP_011527112.1:p.Pro790ArgfsTer?
XM_011528811.1:c.2339del	XP_011527113.1:p.Pro780ArgfsTer?
XM_011528812.1:c.2312del	XP_011527114.1:p.Pro771ArgfsTer?
XM_011528813.1:c.2297del	XP_011527115.1:p.Pro766ArgfsTer?
XM_011528814.1:c.1904del	XP_011527116.1:p.Pro635ArgfsTer?
NM_004518.5:c.2231del	NP_004509.2:p.Pro744ArgfsTer?
NM_172106.2:c.2261del	NP_742104.1:p.Pro754ArgfsTer?
NM_172107.3:c.2315del	NP_742105.1:p.Pro772ArgfsTer?
NM_172108.4:c.2222del	NP_742106.1:p.Pro741ArgfsTer?
XM_011528810.2:c.2369del	XP_011527112.1:p.Pro790ArgfsTer?
XM_011528811.2:c.2339del	XP_011527113.1:p.Pro780ArgfsTer?
XM_017027841.2:c.2366del	XP_016883330.1:p.Pro789ArgfsTer?
XM_017027842.2:c.2303del	XP_016883331.1:p.Pro768ArgfsTer?
XM_017027843.1:c.2300del	XP_016883332.1:p.Pro767ArgfsTer?
XM_017027844.2:c.2258del	XP_016883333.1:p.Pro753ArgfsTer?
XM_017027845.1:c.1331del	XP_016883334.1:p.Pro444ArgfsTer?
NM_004518.6:c.2231del	NP_004509.2:p.Pro744ArgfsTer?
NM_172106.3:c.2261del	NP_742104.1:p.Pro754ArgfsTer?
NM_172107.4:c.2315del MANE Select	NP_742105.1:p.Pro772ArgfsTer?
NM_172108.5:c.2222del	NP_742106.1:p.Pro741ArgfsTer?
NM_001382235.1:c.2369del	NP_001369164.1:p.Pro790ArgfsTer?