Canonical Allele Identifier: CA2653809603
Gene: KCNQ2 HGNC NCBI

Linked Data

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

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGATGGCCCTGTCTGAGCTGGGGGATCTATC , CM000682.2:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGATGGCCCTGTCTGAGCTGGGGGATCTATC GRCh38
NC_000020.10:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGATGGCCCTGTCTGAGCTGGGGGATCTATC , CM000682.1:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGATGGCCCTGTCTGAGCTGGGGGATCTATC GRCh37
NC_000020.9:g.61547431_61547432insCGGGCTAGGGGACCCTGTCTGAGCTGGGGGGGATGGCCCTGTCTGAGCTGGGGGATCTATC NCBI36
NG_009004.1:g.32012_32013insTCCCCCAGCTCAGACAGGGCCATCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA
NG_009004.2:g.32012_32013insTCCCCCAGCTCAGACAGGGCCATCCCCCCCAGCTCAGACAGGGTCCCCTAGCCCGGATAGA

Transcript Alleles

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