Canonical Allele Identifier: CA2653805408

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407059-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407064del , CM000682.2:g.63407064del	GRCh38
NC_000020.10:g.62038417del , CM000682.1:g.62038417del	GRCh37
NC_000020.9:g.61508861del	NCBI36
NG_009004.1:g.70581del
NG_009004.2:g.70581del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2257del	ENSP00000516702.1:p.Asp753ThrfsTer?
ENST00000359125.7:c.2203del MANE Select	ENSP00000352035.2:p.Asp735ThrfsTer?
ENST00000637193.1:c.1600del	ENSP00000490734.1:p.Asp534ThrfsTer?
ENST00000344462.8:c.2110del	ENSP00000339611.4:p.Asp704ThrfsTer?
ENST00000357249.6:c.1771del	ENSP00000349789.3:p.Asp591ThrfsTer?
ENST00000359125.6:c.2203del	ENSP00000352035.2:p.Asp735ThrfsTer?
ENST00000360480.7:c.2119del	ENSP00000353668.3:p.Asp707ThrfsTer?
ENST00000370224.5:c.2227del	ENSP00000359244.2:p.Asp743ThrfsTer?
ENST00000625514.2:c.2191del	ENSP00000486040.1:p.Asp731ThrfsTer?
ENST00000626839.2:c.2149del	ENSP00000486706.1:p.Asp717ThrfsTer?
ENST00000629241.2:c.2119del	ENSP00000487142.1:p.Asp707ThrfsTer?
ENST00000629676.2:c.1680-6217del	ENSP00000486194.1:n.1680-6217del
NM_004518.4:c.2119del	NP_004509.2:p.Asp707ThrfsTer?
NM_172106.1:c.2149del	NP_742104.1:p.Asp717ThrfsTer?
NM_172107.2:c.2203del	NP_742105.1:p.Asp735ThrfsTer?
NM_172108.3:c.2110del	NP_742106.1:p.Asp704ThrfsTer?
XM_006723787.1:c.2245del	XP_006723850.1:p.Asp749ThrfsTer?
XM_011528807.1:c.2311del	XP_011527109.1:p.Asp771ThrfsTer?
XM_011528808.1:c.2308del	XP_011527110.1:p.Asp770ThrfsTer?
XM_011528809.1:c.2281del	XP_011527111.1:p.Asp761ThrfsTer?
XM_011528810.1:c.2257del	XP_011527112.1:p.Asp753ThrfsTer?
XM_011528811.1:c.2227del	XP_011527113.1:p.Asp743ThrfsTer?
XM_011528812.1:c.2200del	XP_011527114.1:p.Asp734ThrfsTer?
XM_011528813.1:c.2185del	XP_011527115.1:p.Asp729ThrfsTer?
XM_011528814.1:c.1792del	XP_011527116.1:p.Asp598ThrfsTer?
NM_004518.5:c.2119del	NP_004509.2:p.Asp707ThrfsTer?
NM_172106.2:c.2149del	NP_742104.1:p.Asp717ThrfsTer?
NM_172107.3:c.2203del	NP_742105.1:p.Asp735ThrfsTer?
NM_172108.4:c.2110del	NP_742106.1:p.Asp704ThrfsTer?
XM_011528810.2:c.2257del	XP_011527112.1:p.Asp753ThrfsTer?
XM_011528811.2:c.2227del	XP_011527113.1:p.Asp743ThrfsTer?
XM_017027841.2:c.2254del	XP_016883330.1:p.Asp752ThrfsTer?
XM_017027842.2:c.2191del	XP_016883331.1:p.Asp731ThrfsTer?
XM_017027843.1:c.2188del	XP_016883332.1:p.Asp730ThrfsTer?
XM_017027844.2:c.2146del	XP_016883333.1:p.Asp716ThrfsTer?
XM_017027845.1:c.1219del	XP_016883334.1:p.Asp407ThrfsTer?
NM_004518.6:c.2119del	NP_004509.2:p.Asp707ThrfsTer?
NM_172106.3:c.2149del	NP_742104.1:p.Asp717ThrfsTer?
NM_172107.4:c.2203del MANE Select	NP_742105.1:p.Asp735ThrfsTer?
NM_172108.5:c.2110del	NP_742106.1:p.Asp704ThrfsTer?
NM_001382235.1:c.2257del	NP_001369164.1:p.Asp753ThrfsTer?