Canonical Allele Identifier: CA1584037155

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs978541604
• gnomAD v4: 5-134371717-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371717C>G , CM000667.2:g.134371717C>G	GRCh38
NC_000005.9:g.133707408C>G , CM000667.1:g.133707408C>G	GRCh37
NC_000005.8:g.133735307C>G	NCBI36
NG_042179.2:g.4331G>C
NG_046936.1:g.5542C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+78C>G (UBE2B)	ENSP00000425137.2:n.44+78C>G
ENST00000265339.7:c.44+78C>G (UBE2B) MANE Select	ENSP00000265339.2:n.44+78C>G
ENST00000265339.6:c.44+78C>G (UBE2B)	ENSP00000265339.2:n.44+78C>G
ENST00000504431.1:n.34+78C>G (UBE2B)
ENST00000506787.5:c.41+78C>G (UBE2B)	ENSP00000426364.1:n.41+78C>G
ENST00000507277.1:c.36+78C>G (UBE2B)
ENST00000510021.5:c.44+78C>G (UBE2B)	ENSP00000425237.1:n.44+78C>G
ENST00000511807.1:n.138+78C>G (UBE2B)
NM_003337.3:c.44+78C>G (UBE2B)	NP_003328.1:n.44+78C>G
XM_024446093.1:c.-93G>C (CDKL3)	XP_024301861.1:n.-93G>C
NM_003337.4:c.44+78C>G (UBE2B) MANE Select	NP_003328.1:n.44+78C>G