Canonical Allele Identifier: CA361462099

Gene: UBE2B CDKL3

Linked Data

• MyVariant Identifiers: chr5:g.133707326A>G (hg19) ; chr5:g.134371635A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371635A>G , CM000667.2:g.134371635A>G	GRCh38
NC_000005.9:g.133707326A>G , CM000667.1:g.133707326A>G	GRCh37
NC_000005.8:g.133735225A>G	NCBI36
NG_042179.2:g.4413T>C
NG_046936.1:g.5460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.40A>G (UBE2B)	ENSP00000425137.2:p.Lys14Glu
ENST00000265339.7:c.40A>G (UBE2B) MANE Select	ENSP00000265339.2:p.Lys14Glu
ENST00000265339.6:c.40A>G (UBE2B)	ENSP00000265339.2:p.Lys14Glu
ENST00000504431.1:n.30A>G (UBE2B)
ENST00000506787.5:c.37A>G (UBE2B)	ENSP00000426364.1:p.Lys13Glu
ENST00000507277.1:c.32A>G (UBE2B)
ENST00000510021.5:c.40A>G (UBE2B)	ENSP00000425237.1:p.Lys14Glu
ENST00000511807.1:n.134A>G (UBE2B)
NM_003337.3:c.40A>G (UBE2B)	NP_003328.1:p.Lys14Glu
XM_024446093.1:c.-11T>C (CDKL3)	XP_024301861.1:n.-11T>C
NM_003337.4:c.40A>G (UBE2B) MANE Select	NP_003328.1:p.Lys14Glu