Canonical Allele Identifier: CA2653805855

Gene: KCNQ2

Linked Data

• gnomAD v4: 20-63407172-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407175del , CM000682.2:g.63407175del	GRCh38
NC_000020.10:g.62038528del , CM000682.1:g.62038528del	GRCh37
NC_000020.9:g.61508972del	NCBI36
NG_009004.1:g.70468del
NG_009004.2:g.70468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2144del	ENSP00000516702.1:p.Gly715AlafsTer?
ENST00000359125.7:c.2090del MANE Select	ENSP00000352035.2:p.Gly697AlafsTer?
ENST00000637193.1:c.1487del	ENSP00000490734.1:p.Gly496AlafsTer?
ENST00000344462.8:c.1997del	ENSP00000339611.4:p.Gly666AlafsTer?
ENST00000357249.6:c.1658del	ENSP00000349789.3:p.Gly553AlafsTer?
ENST00000359125.6:c.2090del	ENSP00000352035.2:p.Gly697AlafsTer?
ENST00000360480.7:c.2006del	ENSP00000353668.3:p.Gly669AlafsTer?
ENST00000370224.5:c.2114del	ENSP00000359244.2:p.Gly705AlafsTer?
ENST00000625514.2:c.2078del	ENSP00000486040.1:p.Gly693AlafsTer?
ENST00000626839.2:c.2036del	ENSP00000486706.1:p.Gly679AlafsTer?
ENST00000629241.2:c.2006del	ENSP00000487142.1:p.Gly669AlafsTer?
ENST00000629676.2:c.1679+6277del	ENSP00000486194.1:n.1679+6277del
NM_004518.4:c.2006del	NP_004509.2:p.Gly669AlafsTer?
NM_172106.1:c.2036del	NP_742104.1:p.Gly679AlafsTer?
NM_172107.2:c.2090del	NP_742105.1:p.Gly697AlafsTer?
NM_172108.3:c.1997del	NP_742106.1:p.Gly666AlafsTer?
XM_006723787.1:c.2132del	XP_006723850.1:p.Gly711AlafsTer?
XM_011528807.1:c.2198del	XP_011527109.1:p.Gly733AlafsTer?
XM_011528808.1:c.2195del	XP_011527110.1:p.Gly732AlafsTer?
XM_011528809.1:c.2168del	XP_011527111.1:p.Gly723AlafsTer?
XM_011528810.1:c.2144del	XP_011527112.1:p.Gly715AlafsTer?
XM_011528811.1:c.2114del	XP_011527113.1:p.Gly705AlafsTer?
XM_011528812.1:c.2087del	XP_011527114.1:p.Gly696AlafsTer?
XM_011528813.1:c.2072del	XP_011527115.1:p.Gly691AlafsTer?
XM_011528814.1:c.1679del	XP_011527116.1:p.Gly560AlafsTer?
NM_004518.5:c.2006del	NP_004509.2:p.Gly669AlafsTer?
NM_172106.2:c.2036del	NP_742104.1:p.Gly679AlafsTer?
NM_172107.3:c.2090del	NP_742105.1:p.Gly697AlafsTer?
NM_172108.4:c.1997del	NP_742106.1:p.Gly666AlafsTer?
XM_011528810.2:c.2144del	XP_011527112.1:p.Gly715AlafsTer?
XM_011528811.2:c.2114del	XP_011527113.1:p.Gly705AlafsTer?
XM_017027841.2:c.2141del	XP_016883330.1:p.Gly714AlafsTer?
XM_017027842.2:c.2078del	XP_016883331.1:p.Gly693AlafsTer?
XM_017027843.1:c.2075del	XP_016883332.1:p.Gly692AlafsTer?
XM_017027844.2:c.2033del	XP_016883333.1:p.Gly678AlafsTer?
XM_017027845.1:c.1106del	XP_016883334.1:p.Gly369AlafsTer?
NM_004518.6:c.2006del	NP_004509.2:p.Gly669AlafsTer?
NM_172106.3:c.2036del	NP_742104.1:p.Gly679AlafsTer?
NM_172107.4:c.2090del MANE Select	NP_742105.1:p.Gly697AlafsTer?
NM_172108.5:c.1997del	NP_742106.1:p.Gly666AlafsTer?
NM_001382235.1:c.2144del	NP_001369164.1:p.Gly715AlafsTer?