Canonical Allele Identifier: CA2697547457

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2772242
• ClinVar RCV Id: RCV003591089

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63414187dup , CM000682.2:g.63414187dup	GRCh38
NC_000020.10:g.62045540dup , CM000682.1:g.62045540dup	GRCh37
NC_000020.9:g.61515984dup	NCBI36
NG_009004.1:g.63454dup
NG_009004.2:g.63454dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000706989.1:c.1478dup	ENSP00000516702.1:p.Ser493ArgfsTer10
ENST00000359125.7:c.1532dup MANE Select	ENSP00000352035.2:p.Ser511ArgfsTer10
ENST00000637193.1:c.929dup	ENSP00000490734.1:p.Ser310ArgfsTer10
ENST00000344462.8:c.1439dup	ENSP00000339611.4:p.Ser480ArgfsTer10
ENST00000357249.6:c.1100dup	ENSP00000349789.3:p.Ser367ArgfsTer10
ENST00000359125.6:c.1532dup	ENSP00000352035.2:p.Ser511ArgfsTer10
ENST00000360480.7:c.1448dup	ENSP00000353668.3:p.Ser483ArgfsTer10
ENST00000370224.5:c.1448dup	ENSP00000359244.2:p.Ser483ArgfsTer10
ENST00000625514.2:c.1412dup	ENSP00000486040.1:p.Ser471ArgfsTer10
ENST00000626839.2:c.1478dup	ENSP00000486706.1:p.Ser493ArgfsTer10
ENST00000627221.2:c.589dup
ENST00000629241.2:c.1448dup	ENSP00000487142.1:p.Ser483ArgfsTer10
ENST00000629318.1:c.140dup	ENSP00000487384.1:p.Ser47ArgfsTer10
ENST00000629676.2:c.1448dup	ENSP00000486194.1:p.Ser483ArgfsTer10
NM_004518.4:c.1448dup	NP_004509.2:p.Ser483ArgfsTer10
NM_172106.1:c.1478dup	NP_742104.1:p.Ser493ArgfsTer10
NM_172107.2:c.1532dup	NP_742105.1:p.Ser511ArgfsTer10
NM_172108.3:c.1439dup	NP_742106.1:p.Ser480ArgfsTer10
XM_006723787.1:c.1532dup	XP_006723850.1:p.Ser511ArgfsTer10
XM_011528807.1:c.1532dup	XP_011527109.1:p.Ser511ArgfsTer10
XM_011528808.1:c.1529dup	XP_011527110.1:p.Ser510ArgfsTer10
XM_011528809.1:c.1502dup	XP_011527111.1:p.Ser501ArgfsTer10
XM_011528810.1:c.1478dup	XP_011527112.1:p.Ser493ArgfsTer10
XM_011528811.1:c.1448dup	XP_011527113.1:p.Ser483ArgfsTer10
XM_011528812.1:c.1529dup	XP_011527114.1:p.Ser510ArgfsTer10
XM_011528813.1:c.1406dup	XP_011527115.1:p.Ser469ArgfsTer10
XM_011528814.1:c.1013dup	XP_011527116.1:p.Ser338ArgfsTer10
XM_011528815.1:c.1532dup	XP_011527117.1:p.Ser511ArgfsTer10
NM_004518.5:c.1448dup	NP_004509.2:p.Ser483ArgfsTer10
NM_172106.2:c.1478dup	NP_742104.1:p.Ser493ArgfsTer10
NM_172107.3:c.1532dup	NP_742105.1:p.Ser511ArgfsTer10
NM_172108.4:c.1439dup	NP_742106.1:p.Ser480ArgfsTer10
XM_011528810.2:c.1478dup	XP_011527112.1:p.Ser493ArgfsTer10
XM_011528811.2:c.1448dup	XP_011527113.1:p.Ser483ArgfsTer10
XM_017027841.2:c.1475dup	XP_016883330.1:p.Ser492ArgfsTer10
XM_017027842.2:c.1478dup	XP_016883331.1:p.Ser493ArgfsTer10
XM_017027843.1:c.1409dup	XP_016883332.1:p.Ser470ArgfsTer10
XM_017027844.2:c.1475dup	XP_016883333.1:p.Ser492ArgfsTer10
XM_017027845.1:c.440dup	XP_016883334.1:p.Ser147ArgfsTer10
NM_004518.6:c.1448dup	NP_004509.2:p.Ser483ArgfsTer10
NM_172106.3:c.1478dup	NP_742104.1:p.Ser493ArgfsTer10
NM_172107.4:c.1532dup MANE Select	NP_742105.1:p.Ser511ArgfsTer10
NM_172108.5:c.1439dup	NP_742106.1:p.Ser480ArgfsTer10
NM_001382235.1:c.1478dup	NP_001369164.1:p.Ser493ArgfsTer10