Canonical Allele Identifier: CA2653806166

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2910467
• ClinVar RCV Id: RCV003753717
• gnomAD v4: 20-63407307-C-CG

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2009dup	ENSP00000516702.1:p.Thr671AspfsTer?
ENST00000359125.7:c.1955dup MANE Select	ENSP00000352035.2:p.Thr653AspfsTer?
ENST00000637193.1:c.1352dup	ENSP00000490734.1:p.Thr452AspfsTer?
ENST00000344462.8:c.1862dup	ENSP00000339611.4:p.Thr622AspfsTer?
ENST00000357249.6:c.1523dup	ENSP00000349789.3:p.Thr509AspfsTer?
ENST00000359125.6:c.1955dup	ENSP00000352035.2:p.Thr653AspfsTer?
ENST00000360480.7:c.1871dup	ENSP00000353668.3:p.Thr625AspfsTer?
ENST00000370224.5:c.1979dup	ENSP00000359244.2:p.Thr661AspfsTer?
ENST00000625514.2:c.1943dup	ENSP00000486040.1:p.Thr649AspfsTer?
ENST00000626839.2:c.1901dup	ENSP00000486706.1:p.Thr635AspfsTer?
ENST00000629241.2:c.1871dup	ENSP00000487142.1:p.Thr625AspfsTer?
ENST00000629676.2:c.1679+6142dup	ENSP00000486194.1:n.1679+6142dup
NM_004518.4:c.1871dup	NP_004509.2:p.Thr625AspfsTer?
NM_172106.1:c.1901dup	NP_742104.1:p.Thr635AspfsTer?
NM_172107.2:c.1955dup	NP_742105.1:p.Thr653AspfsTer?
NM_172108.3:c.1862dup	NP_742106.1:p.Thr622AspfsTer?
XM_006723787.1:c.1997dup	XP_006723850.1:p.Thr667AspfsTer?
XM_011528807.1:c.2063dup	XP_011527109.1:p.Thr689AspfsTer?
XM_011528808.1:c.2060dup	XP_011527110.1:p.Thr688AspfsTer?
XM_011528809.1:c.2033dup	XP_011527111.1:p.Thr679AspfsTer?
XM_011528810.1:c.2009dup	XP_011527112.1:p.Thr671AspfsTer?
XM_011528811.1:c.1979dup	XP_011527113.1:p.Thr661AspfsTer?
XM_011528812.1:c.1952dup	XP_011527114.1:p.Thr652AspfsTer?
XM_011528813.1:c.1937dup	XP_011527115.1:p.Thr647AspfsTer?
XM_011528814.1:c.1544dup	XP_011527116.1:p.Thr516AspfsTer?
NM_004518.5:c.1871dup	NP_004509.2:p.Thr625AspfsTer?
NM_172106.2:c.1901dup	NP_742104.1:p.Thr635AspfsTer?
NM_172107.3:c.1955dup	NP_742105.1:p.Thr653AspfsTer?
NM_172108.4:c.1862dup	NP_742106.1:p.Thr622AspfsTer?
XM_011528810.2:c.2009dup	XP_011527112.1:p.Thr671AspfsTer?
XM_011528811.2:c.1979dup	XP_011527113.1:p.Thr661AspfsTer?
XM_017027841.2:c.2006dup	XP_016883330.1:p.Thr670AspfsTer?
XM_017027842.2:c.1943dup	XP_016883331.1:p.Thr649AspfsTer?
XM_017027843.1:c.1940dup	XP_016883332.1:p.Thr648AspfsTer?
XM_017027844.2:c.1898dup	XP_016883333.1:p.Thr634AspfsTer?
XM_017027845.1:c.971dup	XP_016883334.1:p.Thr325AspfsTer?
NM_004518.6:c.1871dup	NP_004509.2:p.Thr625AspfsTer?
NM_172106.3:c.1901dup	NP_742104.1:p.Thr635AspfsTer?
NM_172107.4:c.1955dup MANE Select	NP_742105.1:p.Thr653AspfsTer?
NM_172108.5:c.1862dup	NP_742106.1:p.Thr622AspfsTer?
NM_001382235.1:c.2009dup	NP_001369164.1:p.Thr671AspfsTer?