Canonical Allele Identifier: CA342509
Gene: KCNQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 21789
ClinVar RCV Id: RCV000678080
dbSNP Id: rs118192196

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63445364_63445366del , CM000682.2:g.63445364_63445366del GRCh38
NC_000020.10:g.62076717_62076719del , CM000682.1:g.62076717_62076719del GRCh37
NC_000020.9:g.61547161_61547163del NCBI36
NG_009004.1:g.32276_32278del
NG_009004.2:g.32276_32278del

Transcript Alleles

HGVS Amino-acid change
ENST00000706989.1:c.388-1_389del
ENST00000344425.8:c.388-1_389del
ENST00000359125.7:c.388-1_389del
ENST00000636255.1:n.126-1_127del
ENST00000636846.1:n.96-1_97del
ENST00000637193.1:c.-132-1_-131del
ENST00000637704.1:n.23-1_24del
ENST00000344425.7:c.388-1_389del
ENST00000344462.8:c.388-1_389del
ENST00000357249.6:c.46-1_47del
ENST00000359125.6:c.388-1_389del
ENST00000360480.7:c.388-1_389del
ENST00000370221.3:n.514-1_515del
ENST00000370224.5:c.388-1_389del
ENST00000625514.2:c.388-1_389del
ENST00000626313.1:n.230-1_231del
ENST00000626839.2:c.388-1_389del
ENST00000629241.2:c.388-1_389del
ENST00000629676.2:c.388-1_389del
ENST00000630274.2:n.212_214del
NM_004518.4:c.388-1_389del
NM_172106.1:c.388-1_389del
NM_172107.2:c.388-1_389del
NM_172108.3:c.388-1_389del
NM_172109.1:c.388-1_389del
XM_006723787.1:c.388-1_389del
XM_011528807.1:c.388-1_389del
XM_011528808.1:c.388-1_389del
XM_011528809.1:c.388-1_389del
XM_011528810.1:c.388-1_389del
XM_011528811.1:c.388-1_389del
XM_011528812.1:c.388-1_389del
XM_011528813.1:c.388-1_389del
XM_011528814.1:c.-132-1_-131del
XM_011528815.1:c.388-1_389del
XM_011528816.1:c.388-1_389del
NM_004518.5:c.388-1_389del
NM_172106.2:c.388-1_389del
NM_172107.3:c.388-1_389del
NM_172108.4:c.388-1_389del
NM_172109.2:c.388-1_389del
XM_011528810.2:c.388-1_389del
XM_011528811.2:c.388-1_389del
XM_017027841.2:c.388-1_389del
XM_017027842.2:c.388-1_389del
XM_017027843.1:c.319-1_320del
XM_017027844.2:c.388-1_389del
NM_004518.6:c.388-1_389del
NM_172106.3:c.388-1_389del
NM_172107.4:c.388-1_389del
NM_172108.5:c.388-1_389del
NM_172109.3:c.388-1_389del
NM_001382235.1:c.388-1_389del