Canonical Allele Identifier: CA2768485765

Gene: UBE2B CDKL3

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371692C>G , CM000667.2:g.134371692C>G	GRCh38
NC_000005.9:g.133707383C>G , CM000667.1:g.133707383C>G	GRCh37
NC_000005.8:g.133735282C>G	NCBI36
NG_042179.2:g.4356G>C
NG_046936.1:g.5517C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+53C>G (UBE2B)	ENSP00000425137.2:n.44+53C>G
ENST00000265339.7:c.44+53C>G (UBE2B) MANE Select	ENSP00000265339.2:n.44+53C>G
ENST00000265339.6:c.44+53C>G (UBE2B)	ENSP00000265339.2:n.44+53C>G
ENST00000504431.1:n.34+53C>G (UBE2B)
ENST00000506787.5:c.41+53C>G (UBE2B)	ENSP00000426364.1:n.41+53C>G
ENST00000507277.1:c.36+53C>G (UBE2B)
ENST00000510021.5:c.44+53C>G (UBE2B)	ENSP00000425237.1:n.44+53C>G
ENST00000511807.1:n.138+53C>G (UBE2B)
NM_003337.3:c.44+53C>G (UBE2B)	NP_003328.1:n.44+53C>G
XM_024446093.1:c.-68G>C (CDKL3)	XP_024301861.1:n.-68G>C
NM_003337.4:c.44+53C>G (UBE2B) MANE Select	NP_003328.1:n.44+53C>G