Canonical Allele Identifier: CA915952956

Gene: KCNQ2

Linked Data

• ClinVar Variation Id: 648996
• ClinVar RCV Id: RCV000803845
• dbSNP Id: rs1601542417

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63406903dup , CM000682.2:g.63406903dup	GRCh38
NC_000020.10:g.62038256dup , CM000682.1:g.62038256dup	GRCh37
NC_000020.9:g.61508700dup	NCBI36
NG_009004.1:g.70739dup
NG_009004.2:g.70739dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.2415dup	ENSP00000516702.1:p.Ile806HisfsTer?
ENST00000359125.7:c.2361dup MANE Select	ENSP00000352035.2:p.Ile788HisfsTer?
ENST00000637193.1:c.1758dup	ENSP00000490734.1:p.Ile587HisfsTer?
ENST00000344462.8:c.2268dup	ENSP00000339611.4:p.Ile757HisfsTer?
ENST00000357249.6:c.1929dup	ENSP00000349789.3:p.Ile644HisfsTer?
ENST00000359125.6:c.2361dup	ENSP00000352035.2:p.Ile788HisfsTer?
ENST00000360480.7:c.2277dup	ENSP00000353668.3:p.Ile760HisfsTer?
ENST00000370224.5:c.2241+144dup	ENSP00000359244.2:n.2241+144dup
ENST00000625514.2:c.2205+144dup	ENSP00000486040.1:n.2205+144dup
ENST00000626839.2:c.2307dup	ENSP00000486706.1:p.Ile770HisfsTer?
ENST00000629241.2:c.2133+144dup	ENSP00000487142.1:n.2133+144dup
ENST00000629676.2:c.1680-6059dup	ENSP00000486194.1:n.1680-6059dup
NM_004518.4:c.2277dup	NP_004509.2:p.Ile760HisfsTer?
NM_172106.1:c.2307dup	NP_742104.1:p.Ile770HisfsTer?
NM_172107.2:c.2361dup	NP_742105.1:p.Ile788HisfsTer?
NM_172108.3:c.2268dup	NP_742106.1:p.Ile757HisfsTer?
XM_006723787.1:c.2403dup	XP_006723850.1:p.Ile802HisfsTer?
XM_011528807.1:c.2469dup	XP_011527109.1:p.Ile824HisfsTer?
XM_011528808.1:c.2466dup	XP_011527110.1:p.Ile823HisfsTer?
XM_011528809.1:c.2439dup	XP_011527111.1:p.Ile814HisfsTer?
XM_011528810.1:c.2415dup	XP_011527112.1:p.Ile806HisfsTer?
XM_011528811.1:c.2385dup	XP_011527113.1:p.Ile796HisfsTer?
XM_011528812.1:c.2358dup	XP_011527114.1:p.Ile787HisfsTer?
XM_011528813.1:c.2343dup	XP_011527115.1:p.Ile782HisfsTer?
XM_011528814.1:c.1950dup	XP_011527116.1:p.Ile651HisfsTer?
NM_004518.5:c.2277dup	NP_004509.2:p.Ile760HisfsTer?
NM_172106.2:c.2307dup	NP_742104.1:p.Ile770HisfsTer?
NM_172107.3:c.2361dup	NP_742105.1:p.Ile788HisfsTer?
NM_172108.4:c.2268dup	NP_742106.1:p.Ile757HisfsTer?
XM_011528810.2:c.2415dup	XP_011527112.1:p.Ile806HisfsTer?
XM_011528811.2:c.2385dup	XP_011527113.1:p.Ile796HisfsTer?
XM_017027841.2:c.2412dup	XP_016883330.1:p.Ile805HisfsTer?
XM_017027842.2:c.2349dup	XP_016883331.1:p.Ile784HisfsTer?
XM_017027843.1:c.2346dup	XP_016883332.1:p.Ile783HisfsTer?
XM_017027844.2:c.2304dup	XP_016883333.1:p.Ile769HisfsTer?
XM_017027845.1:c.1377dup	XP_016883334.1:p.Ile460HisfsTer?
NM_004518.6:c.2277dup	NP_004509.2:p.Ile760HisfsTer?
NM_172106.3:c.2307dup	NP_742104.1:p.Ile770HisfsTer?
NM_172107.4:c.2361dup MANE Select	NP_742105.1:p.Ile788HisfsTer?
NM_172108.5:c.2268dup	NP_742106.1:p.Ile757HisfsTer?
NM_001382235.1:c.2415dup	NP_001369164.1:p.Ile806HisfsTer?