Canonical Allele Identifier: CA2653809809
Gene: KCNQ2 HGNC NCBI

Linked Data

gnomAD v4: 20-63445628-C-CTCTATCCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGGTGGCCCTTTCTGAGCTGGGGGA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGGTGGCCCTTTCTGAGCTGGGGGATCTATC , CM000682.2:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGGTGGCCCTTTCTGAGCTGGGGGATCTATC GRCh38
NC_000020.10:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGGTGGCCCTTTCTGAGCTGGGGGATCTATC , CM000682.1:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGGTGGCCCTTTCTGAGCTGGGGGATCTATC GRCh37
NC_000020.9:g.61547431_61547432insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGGTGGCCCTTTCTGAGCTGGGGGATCTATC NCBI36
NG_009004.1:g.32012_32013insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
NG_009004.2:g.32012_32013insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000516702.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000344425.8:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000345523.5:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000359125.7:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA MANE Select ENSP00000352035.2:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000636255.1:n.126-265_126-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000636846.1:n.96-265_96-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000637193.1:c.-132-265_-132-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000490734.1:n.-132-265_-132-264insTCCCCCAGCTCAGAAAGGGCC...
ENST00000637704.1:n.23-265_23-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000344425.7:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000345523.5:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000344462.8:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000339611.4:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000357249.6:c.46-265_46-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000349789.3:n.46-265_46-264insTCCCCCAGCTCAGAAAGGGCCACCC...
ENST00000359125.6:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000352035.2:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000360480.7:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000353668.3:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000370221.3:n.514-265_514-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000370224.5:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000359244.2:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000625514.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000486040.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000626313.1:n.230-265_230-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
ENST00000626839.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000486706.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000629241.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000487142.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
ENST00000629676.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA ENSP00000486194.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCAC...
NM_004518.4:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_004509.2:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172106.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742104.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172107.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742105.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172108.3:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742106.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172109.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742107.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
XM_006723787.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_006723850.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528807.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527109.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528808.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527110.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528809.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527111.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528810.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527112.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528811.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527113.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528812.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527114.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528813.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527115.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528814.1:c.-132-265_-132-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527116.1:n.-132-265_-132-264insTCCCCCAGCTCAGAAAGGGCCACC...
XM_011528815.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527117.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528816.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527118.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
NM_004518.5:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_004509.2:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172106.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742104.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172107.3:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742105.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172108.4:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742106.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172109.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742107.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
XM_011528810.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527112.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_011528811.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_011527113.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_017027841.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_016883330.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_017027842.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_016883331.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_017027843.1:c.319-265_319-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_016883332.1:n.319-265_319-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
XM_017027844.2:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA XP_016883333.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
NM_004518.6:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_004509.2:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172106.3:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742104.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172107.4:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA MANE Select NP_742105.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172108.5:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742106.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_172109.3:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_742107.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCC...
NM_001382235.1:c.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA NP_001369164.1:n.388-265_388-264insTCCCCCAGCTCAGAAAGGGCCACCCC...
Search 100 bp 5'
Search 100 bp 3'