Canonical Allele Identifier: CA2675304002

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371693-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371693A>G , CM000667.2:g.134371693A>G	GRCh38
NC_000005.9:g.133707384A>G , CM000667.1:g.133707384A>G	GRCh37
NC_000005.8:g.133735283A>G	NCBI36
NG_042179.2:g.4355T>C
NG_046936.1:g.5518A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+54A>G (UBE2B)	ENSP00000425137.2:n.44+54A>G
ENST00000265339.7:c.44+54A>G (UBE2B) MANE Select	ENSP00000265339.2:n.44+54A>G
ENST00000265339.6:c.44+54A>G (UBE2B)	ENSP00000265339.2:n.44+54A>G
ENST00000504431.1:n.34+54A>G (UBE2B)
ENST00000506787.5:c.41+54A>G (UBE2B)	ENSP00000426364.1:n.41+54A>G
ENST00000507277.1:c.36+54A>G (UBE2B)
ENST00000510021.5:c.44+54A>G (UBE2B)	ENSP00000425237.1:n.44+54A>G
ENST00000511807.1:n.138+54A>G (UBE2B)
NM_003337.3:c.44+54A>G (UBE2B)	NP_003328.1:n.44+54A>G
XM_024446093.1:c.-69T>C (CDKL3)	XP_024301861.1:n.-69T>C
NM_003337.4:c.44+54A>G (UBE2B) MANE Select	NP_003328.1:n.44+54A>G