Canonical Allele Identifier: CA1584037152

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1758431328
• gnomAD v4: 5-134371716-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371716C>A , CM000667.2:g.134371716C>A	GRCh38
NC_000005.9:g.133707407C>A , CM000667.1:g.133707407C>A	GRCh37
NC_000005.8:g.133735306C>A	NCBI36
NG_042179.2:g.4332G>T
NG_046936.1:g.5541C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+77C>A (UBE2B)	ENSP00000425137.2:n.44+77C>A
ENST00000265339.7:c.44+77C>A (UBE2B) MANE Select	ENSP00000265339.2:n.44+77C>A
ENST00000265339.6:c.44+77C>A (UBE2B)	ENSP00000265339.2:n.44+77C>A
ENST00000504431.1:n.34+77C>A (UBE2B)
ENST00000506787.5:c.41+77C>A (UBE2B)	ENSP00000426364.1:n.41+77C>A
ENST00000507277.1:c.36+77C>A (UBE2B)
ENST00000510021.5:c.44+77C>A (UBE2B)	ENSP00000425237.1:n.44+77C>A
ENST00000511807.1:n.138+77C>A (UBE2B)
NM_003337.3:c.44+77C>A (UBE2B)	NP_003328.1:n.44+77C>A
XM_024446093.1:c.-92G>T (CDKL3)	XP_024301861.1:n.-92G>T
NM_003337.4:c.44+77C>A (UBE2B) MANE Select	NP_003328.1:n.44+77C>A