Canonical Allele Identifier: CA361462017

Gene: UBE2B CDKL3

Linked Data

• MyVariant Identifiers: chr5:g.133707312T>G (hg19) ; chr5:g.134371621T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371621T>G , CM000667.2:g.134371621T>G	GRCh38
NC_000005.9:g.133707312T>G , CM000667.1:g.133707312T>G	GRCh37
NC_000005.8:g.133735211T>G	NCBI36
NG_042179.2:g.4427A>C
NG_046936.1:g.5446T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.26T>G (UBE2B)	ENSP00000425137.2:p.Leu9Arg
ENST00000265339.7:c.26T>G (UBE2B) MANE Select	ENSP00000265339.2:p.Leu9Arg
ENST00000265339.6:c.26T>G (UBE2B)	ENSP00000265339.2:p.Leu9Arg
ENST00000504431.1:n.16T>G (UBE2B)
ENST00000506787.5:c.23T>G (UBE2B)	ENSP00000426364.1:p.Leu8Arg
ENST00000507277.1:c.18T>G (UBE2B)
ENST00000510021.5:c.26T>G (UBE2B)	ENSP00000425237.1:p.Leu9Arg
ENST00000511807.1:n.120T>G (UBE2B)
NM_003337.3:c.26T>G (UBE2B)	NP_003328.1:p.Leu9Arg
XM_024446093.1:c.4A>C (CDKL3)	XP_024301861.1:p.Ser2Arg
NM_003337.4:c.26T>G (UBE2B) MANE Select	NP_003328.1:p.Leu9Arg