Canonical Allele Identifier: CA3413469

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs748780254
• ExAC: 5:133707363 C / G
• gnomAD v2: 5-133707363-C-G
• gnomAD v4: 5-134371672-C-G
• MyVariant Identifiers: chr5:g.133707363C>G (hg19) ; chr5:g.134371672C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371672C>G , CM000667.2:g.134371672C>G	GRCh38
NC_000005.9:g.133707363C>G , CM000667.1:g.133707363C>G	GRCh37
NC_000005.8:g.133735262C>G	NCBI36
NG_042179.2:g.4376G>C
NG_046936.1:g.5497C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+33C>G (UBE2B)	ENSP00000425137.2:n.44+33C>G
ENST00000265339.7:c.44+33C>G (UBE2B) MANE Select	ENSP00000265339.2:n.44+33C>G
ENST00000265339.6:c.44+33C>G (UBE2B)	ENSP00000265339.2:n.44+33C>G
ENST00000504431.1:n.34+33C>G (UBE2B)
ENST00000506787.5:c.41+33C>G (UBE2B)	ENSP00000426364.1:n.41+33C>G
ENST00000507277.1:c.36+33C>G (UBE2B)
ENST00000510021.5:c.44+33C>G (UBE2B)	ENSP00000425237.1:n.44+33C>G
ENST00000511807.1:n.138+33C>G (UBE2B)
NM_003337.3:c.44+33C>G (UBE2B)	NP_003328.1:n.44+33C>G
XM_024446093.1:c.-48G>C (CDKL3)	XP_024301861.1:n.-48G>C
NM_003337.4:c.44+33C>G (UBE2B) MANE Select	NP_003328.1:n.44+33C>G