Canonical Allele Identifier: CA2739277258

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2808507
• ClinVar RCV Id: RCV003754082

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63407328dup , CM000682.2:g.63407328dup	GRCh38
NC_000020.10:g.62038681dup , CM000682.1:g.62038681dup	GRCh37
NC_000020.9:g.61509125dup	NCBI36
NG_009004.1:g.70313dup
NG_009004.2:g.70313dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.1989dup	ENSP00000516702.1:p.Gln664AlafsTer?
ENST00000359125.7:c.1935dup MANE Select	ENSP00000352035.2:p.Gln646AlafsTer?
ENST00000637193.1:c.1332dup	ENSP00000490734.1:p.Gln445AlafsTer?
ENST00000637338.1:n.92dup
ENST00000344462.8:c.1842dup	ENSP00000339611.4:p.Gln615AlafsTer?
ENST00000357249.6:c.1503dup	ENSP00000349789.3:p.Gln502AlafsTer?
ENST00000359125.6:c.1935dup	ENSP00000352035.2:p.Gln646AlafsTer?
ENST00000360480.7:c.1851dup	ENSP00000353668.3:p.Gln618AlafsTer?
ENST00000370224.5:c.1959dup	ENSP00000359244.2:p.Gln654AlafsTer?
ENST00000625514.2:c.1923dup	ENSP00000486040.1:p.Gln642AlafsTer?
ENST00000626839.2:c.1881dup	ENSP00000486706.1:p.Gln628AlafsTer?
ENST00000629241.2:c.1851dup	ENSP00000487142.1:p.Gln618AlafsTer?
ENST00000629676.2:c.1679+6122dup	ENSP00000486194.1:n.1679+6122dup
NM_004518.4:c.1851dup	NP_004509.2:p.Gln618AlafsTer?
NM_172106.1:c.1881dup	NP_742104.1:p.Gln628AlafsTer?
NM_172107.2:c.1935dup	NP_742105.1:p.Gln646AlafsTer?
NM_172108.3:c.1842dup	NP_742106.1:p.Gln615AlafsTer?
XM_006723787.1:c.1977dup	XP_006723850.1:p.Gln660AlafsTer?
XM_011528807.1:c.2043dup	XP_011527109.1:p.Gln682AlafsTer?
XM_011528808.1:c.2040dup	XP_011527110.1:p.Gln681AlafsTer?
XM_011528809.1:c.2013dup	XP_011527111.1:p.Gln672AlafsTer?
XM_011528810.1:c.1989dup	XP_011527112.1:p.Gln664AlafsTer?
XM_011528811.1:c.1959dup	XP_011527113.1:p.Gln654AlafsTer?
XM_011528812.1:c.1932dup	XP_011527114.1:p.Gln645AlafsTer?
XM_011528813.1:c.1917dup	XP_011527115.1:p.Gln640AlafsTer?
XM_011528814.1:c.1524dup	XP_011527116.1:p.Gln509AlafsTer?
NM_004518.5:c.1851dup	NP_004509.2:p.Gln618AlafsTer?
NM_172106.2:c.1881dup	NP_742104.1:p.Gln628AlafsTer?
NM_172107.3:c.1935dup	NP_742105.1:p.Gln646AlafsTer?
NM_172108.4:c.1842dup	NP_742106.1:p.Gln615AlafsTer?
XM_011528810.2:c.1989dup	XP_011527112.1:p.Gln664AlafsTer?
XM_011528811.2:c.1959dup	XP_011527113.1:p.Gln654AlafsTer?
XM_017027841.2:c.1986dup	XP_016883330.1:p.Gln663AlafsTer?
XM_017027842.2:c.1923dup	XP_016883331.1:p.Gln642AlafsTer?
XM_017027843.1:c.1920dup	XP_016883332.1:p.Gln641AlafsTer?
XM_017027844.2:c.1878dup	XP_016883333.1:p.Gln627AlafsTer?
XM_017027845.1:c.951dup	XP_016883334.1:p.Gln318AlafsTer?
NM_004518.6:c.1851dup	NP_004509.2:p.Gln618AlafsTer?
NM_172106.3:c.1881dup	NP_742104.1:p.Gln628AlafsTer?
NM_172107.4:c.1935dup MANE Select	NP_742105.1:p.Gln646AlafsTer?
NM_172108.5:c.1842dup	NP_742106.1:p.Gln615AlafsTer?
NM_001382235.1:c.1989dup	NP_001369164.1:p.Gln664AlafsTer?