Canonical Allele Identifier: CA2653810040
Gene: KCNQ2 HGNC NCBI

Linked Data

gnomAD v4: 20-63445633-T-TCCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTAA
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTAAC , CM000682.2:g.63445634_63445635insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTAAC GRCh38
NC_000020.10:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTAAC , CM000682.1:g.62076987_62076988insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTAAC GRCh37
NC_000020.9:g.61547431_61547432insCGGGCTAGGGGACCCTGTCTGAGCTGTGGGGGGTGGCCCTGTCTGAGCTGGGGGATCTAAC NCBI36
NG_009004.1:g.32007_32008insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG
NG_009004.2:g.32007_32008insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000516702.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000344425.8:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000345523.5:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000359125.7:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG MANE Select ENSP00000352035.2:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000636255.1:n.126-270_126-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG
ENST00000636846.1:n.96-270_96-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG
ENST00000637193.1:c.-132-270_-132-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000490734.1:n.-132-270_-132-269insTTAGATCCCCCAGCTCAGACA...
ENST00000637704.1:n.23-270_23-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG
ENST00000344425.7:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000345523.5:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000344462.8:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000339611.4:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000357249.6:c.46-270_46-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000349789.3:n.46-270_46-269insTTAGATCCCCCAGCTCAGACAGGGC...
ENST00000359125.6:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000352035.2:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000360480.7:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000353668.3:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000370221.3:n.514-270_514-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG
ENST00000370224.5:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000359244.2:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000625514.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000486040.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000626313.1:n.230-270_230-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG
ENST00000626839.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000486706.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000629241.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000487142.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
ENST00000629676.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG ENSP00000486194.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGG...
NM_004518.4:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_004509.2:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172106.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742104.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172107.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742105.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172108.3:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742106.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172109.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742107.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
XM_006723787.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_006723850.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528807.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527109.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528808.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527110.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528809.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527111.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528810.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527112.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528811.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527113.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528812.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527114.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528813.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527115.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528814.1:c.-132-270_-132-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527116.1:n.-132-270_-132-269insTTAGATCCCCCAGCTCAGACAGGG...
XM_011528815.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527117.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528816.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527118.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
NM_004518.5:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_004509.2:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172106.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742104.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172107.3:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742105.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172108.4:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742106.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172109.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742107.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
XM_011528810.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527112.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_011528811.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_011527113.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_017027841.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_016883330.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_017027842.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_016883331.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_017027843.1:c.319-270_319-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_016883332.1:n.319-270_319-269insTTAGATCCCCCAGCTCAGACAGGGCC...
XM_017027844.2:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG XP_016883333.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
NM_004518.6:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_004509.2:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172106.3:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742104.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172107.4:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG MANE Select NP_742105.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172108.5:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742106.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_172109.3:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_742107.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACC...
NM_001382235.1:c.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCCACCCCCCACAGCTCAGACAGGGTCCCCTAGCCCGG NP_001369164.1:n.388-270_388-269insTTAGATCCCCCAGCTCAGACAGGGCC...
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