Canonical Allele Identifier: CA2374796488

Gene: KCNQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.63445362_63445365delinsTTCC , CM000682.2:g.63445362_63445365delinsTTCC	GRCh38
NC_000020.10:g.62076715_62076718delinsTTCC , CM000682.1:g.62076715_62076718delinsTTCC	GRCh37
NC_000020.9:g.61547159_61547162delinsTTCC	NCBI36
NG_009004.1:g.32276_32279delinsGGAA
NG_009004.2:g.32276_32279delinsGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000706989.1:c.388-1_390delinsGGAA
ENST00000344425.8:c.388-1_390delinsGGAA
ENST00000359125.7:c.388-1_390delinsGGAA
ENST00000636255.1:n.126-1_128delinsGGAA
ENST00000636846.1:n.96-1_98delinsGGAA
ENST00000637193.1:c.-132-1_-130delinsGGAA
ENST00000637704.1:n.23-1_25delinsGGAA
ENST00000344425.7:c.388-1_390delinsGGAA
ENST00000344462.8:c.388-1_390delinsGGAA
ENST00000357249.6:c.46-1_48delinsGGAA
ENST00000359125.6:c.388-1_390delinsGGAA
ENST00000360480.7:c.388-1_390delinsGGAA
ENST00000370221.3:n.514-1_516delinsGGAA
ENST00000370224.5:c.388-1_390delinsGGAA
ENST00000625514.2:c.388-1_390delinsGGAA
ENST00000626313.1:n.230-1_232delinsGGAA
ENST00000626839.2:c.388-1_390delinsGGAA
ENST00000629241.2:c.388-1_390delinsGGAA
ENST00000629676.2:c.388-1_390delinsGGAA
ENST00000630274.2:n.212_215delinsGGAA
NM_004518.4:c.388-1_390delinsGGAA
NM_172106.1:c.388-1_390delinsGGAA
NM_172107.2:c.388-1_390delinsGGAA
NM_172108.3:c.388-1_390delinsGGAA
NM_172109.1:c.388-1_390delinsGGAA
XM_006723787.1:c.388-1_390delinsGGAA
XM_011528807.1:c.388-1_390delinsGGAA
XM_011528808.1:c.388-1_390delinsGGAA
XM_011528809.1:c.388-1_390delinsGGAA
XM_011528810.1:c.388-1_390delinsGGAA
XM_011528811.1:c.388-1_390delinsGGAA
XM_011528812.1:c.388-1_390delinsGGAA
XM_011528813.1:c.388-1_390delinsGGAA
XM_011528814.1:c.-132-1_-130delinsGGAA
XM_011528815.1:c.388-1_390delinsGGAA
XM_011528816.1:c.388-1_390delinsGGAA
NM_004518.5:c.388-1_390delinsGGAA
NM_172106.2:c.388-1_390delinsGGAA
NM_172107.3:c.388-1_390delinsGGAA
NM_172108.4:c.388-1_390delinsGGAA
NM_172109.2:c.388-1_390delinsGGAA
XM_011528810.2:c.388-1_390delinsGGAA
XM_011528811.2:c.388-1_390delinsGGAA
XM_017027841.2:c.388-1_390delinsGGAA
XM_017027842.2:c.388-1_390delinsGGAA
XM_017027843.1:c.319-1_321delinsGGAA
XM_017027844.2:c.388-1_390delinsGGAA
NM_004518.6:c.388-1_390delinsGGAA
NM_172106.3:c.388-1_390delinsGGAA
NM_172107.4:c.388-1_390delinsGGAA
NM_172108.5:c.388-1_390delinsGGAA
NM_172109.3:c.388-1_390delinsGGAA
NM_001382235.1:c.388-1_390delinsGGAA