Canonical Allele Identifier: CA2695230068
Gene: KCNQ2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63438625dup , CM000682.2:g.63438625dup GRCh38
NC_000020.10:g.62069978dup , CM000682.1:g.62069978dup GRCh37
NC_000020.9:g.61540422dup NCBI36
NG_009004.1:g.39017dup
NG_009004.2:g.39017dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000706989.1:c.1023+1dup
ENST00000344425.8:c.1023+1dup
ENST00000359125.7:c.1023+1dup
ENST00000636255.1:n.761+1dup
ENST00000636858.1:n.49+1dup
ENST00000637193.1:c.504+1dup
ENST00000344425.7:c.1023+1dup
ENST00000344462.8:c.1023+1dup
ENST00000357249.6:c.681+1dup
ENST00000359125.6:c.1023+1dup
ENST00000360480.7:c.1023+1dup
ENST00000370221.3:n.1149+1dup
ENST00000370224.5:c.1023+1dup
ENST00000625514.2:c.1023+1dup
ENST00000626684.1:c.389dup
ENST00000626839.2:c.1023+1dup
ENST00000627221.2:c.167+1dup
ENST00000629241.2:c.1023+1dup
ENST00000629498.2:c.496+1dup
ENST00000629676.2:c.1023+1dup
NM_004518.4:c.1023+1dup
NM_172106.1:c.1023+1dup
NM_172107.2:c.1023+1dup
NM_172108.3:c.1023+1dup
NM_172109.1:c.1023+1dup
XM_006723787.1:c.1023+1dup
XM_011528807.1:c.1023+1dup
XM_011528808.1:c.1023+1dup
XM_011528809.1:c.1023+1dup
XM_011528810.1:c.1023+1dup
XM_011528811.1:c.1023+1dup
XM_011528812.1:c.1023+1dup
XM_011528813.1:c.897+1dup
XM_011528814.1:c.504+1dup
XM_011528815.1:c.1023+1dup
XM_011528816.1:c.1023+1dup
NM_004518.5:c.1023+1dup
NM_172106.2:c.1023+1dup
NM_172107.3:c.1023+1dup
NM_172108.4:c.1023+1dup
NM_172109.2:c.1023+1dup
XM_011528810.2:c.1023+1dup
XM_011528811.2:c.1023+1dup
XM_017027841.2:c.1023+1dup
XM_017027842.2:c.1023+1dup
XM_017027843.1:c.954+1dup
XM_017027844.2:c.1023+1dup
NM_004518.6:c.1023+1dup
NM_172106.3:c.1023+1dup
NM_172107.4:c.1023+1dup
NM_172108.5:c.1023+1dup
NM_172109.3:c.1023+1dup
NM_001382235.1:c.1023+1dup