Canonical Allele Identifier: CA2697547468

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 2705621
• ClinVar RCV Id: RCV003589830

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63446804dup , CM000682.2:g.63446804dup	GRCh38
NC_000020.10:g.62078157dup , CM000682.1:g.62078157dup	GRCh37
NC_000020.9:g.61548601dup	NCBI36
NG_009004.1:g.30837dup
NG_009004.2:g.30837dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.330dup	ENSP00000516702.1:p.Val111CysfsTer9
ENST00000344425.8:c.330dup	ENSP00000345523.5:p.Val111CysfsTer9
ENST00000359125.7:c.330dup MANE Select	ENSP00000352035.2:p.Val111CysfsTer9
ENST00000636065.1:n.116dup
ENST00000636255.1:n.68dup
ENST00000636623.1:n.91dup
ENST00000637133.1:n.103dup
ENST00000637193.1:c.-190dup	ENSP00000490734.1:n.-190dup
ENST00000637772.1:n.63dup
ENST00000637803.1:n.128dup
ENST00000344425.7:c.330dup	ENSP00000345523.5:p.Val111CysfsTer9
ENST00000344462.8:c.330dup	ENSP00000339611.4:p.Val111CysfsTer9
ENST00000359125.6:c.330dup	ENSP00000352035.2:p.Val111CysfsTer9
ENST00000360480.7:c.330dup	ENSP00000353668.3:p.Val111CysfsTer9
ENST00000370221.3:n.456dup
ENST00000370224.5:c.330dup	ENSP00000359244.2:p.Val111CysfsTer9
ENST00000625514.2:c.330dup	ENSP00000486040.1:p.Val111CysfsTer9
ENST00000626313.1:n.172dup
ENST00000626839.2:c.330dup	ENSP00000486706.1:p.Val111CysfsTer9
ENST00000629241.2:c.330dup	ENSP00000487142.1:p.Val111CysfsTer9
ENST00000629676.2:c.330dup	ENSP00000486194.1:p.Val111CysfsTer9
NM_004518.4:c.330dup	NP_004509.2:p.Val111CysfsTer9
NM_172106.1:c.330dup	NP_742104.1:p.Val111CysfsTer9
NM_172107.2:c.330dup	NP_742105.1:p.Val111CysfsTer9
NM_172108.3:c.330dup	NP_742106.1:p.Val111CysfsTer9
NM_172109.1:c.330dup	NP_742107.1:p.Val111CysfsTer9
XM_006723787.1:c.330dup	XP_006723850.1:p.Val111CysfsTer9
XM_011528807.1:c.330dup	XP_011527109.1:p.Val111CysfsTer9
XM_011528808.1:c.330dup	XP_011527110.1:p.Val111CysfsTer9
XM_011528809.1:c.330dup	XP_011527111.1:p.Val111CysfsTer9
XM_011528810.1:c.330dup	XP_011527112.1:p.Val111CysfsTer9
XM_011528811.1:c.330dup	XP_011527113.1:p.Val111CysfsTer9
XM_011528812.1:c.330dup	XP_011527114.1:p.Val111CysfsTer9
XM_011528813.1:c.330dup	XP_011527115.1:p.Val111CysfsTer9
XM_011528815.1:c.330dup	XP_011527117.1:p.Val111CysfsTer9
XM_011528816.1:c.330dup	XP_011527118.1:p.Val111CysfsTer9
NM_004518.5:c.330dup	NP_004509.2:p.Val111CysfsTer9
NM_172106.2:c.330dup	NP_742104.1:p.Val111CysfsTer9
NM_172107.3:c.330dup	NP_742105.1:p.Val111CysfsTer9
NM_172108.4:c.330dup	NP_742106.1:p.Val111CysfsTer9
NM_172109.2:c.330dup	NP_742107.1:p.Val111CysfsTer9
XM_011528810.2:c.330dup	XP_011527112.1:p.Val111CysfsTer9
XM_011528811.2:c.330dup	XP_011527113.1:p.Val111CysfsTer9
XM_017027841.2:c.330dup	XP_016883330.1:p.Val111CysfsTer9
XM_017027842.2:c.330dup	XP_016883331.1:p.Val111CysfsTer9
XM_017027843.1:c.261dup	XP_016883332.1:p.Val88CysfsTer9
XM_017027844.2:c.330dup	XP_016883333.1:p.Val111CysfsTer9
NM_004518.6:c.330dup	NP_004509.2:p.Val111CysfsTer9
NM_172106.3:c.330dup	NP_742104.1:p.Val111CysfsTer9
NM_172107.4:c.330dup MANE Select	NP_742105.1:p.Val111CysfsTer9
NM_172108.5:c.330dup	NP_742106.1:p.Val111CysfsTer9
NM_172109.3:c.330dup	NP_742107.1:p.Val111CysfsTer9
NM_001382235.1:c.330dup	NP_001369164.1:p.Val111CysfsTer9