Canonical Allele Identifier: CA361462008

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371620-C-G
• MyVariant Identifiers: chr5:g.133707311C>G (hg19) ; chr5:g.134371620C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371620C>G , CM000667.2:g.134371620C>G	GRCh38
NC_000005.9:g.133707311C>G , CM000667.1:g.133707311C>G	GRCh37
NC_000005.8:g.133735210C>G	NCBI36
NG_042179.2:g.4428G>C
NG_046936.1:g.5445C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.25C>G (UBE2B)	ENSP00000425137.2:p.Leu9Val
ENST00000265339.7:c.25C>G (UBE2B) MANE Select	ENSP00000265339.2:p.Leu9Val
ENST00000265339.6:c.25C>G (UBE2B)	ENSP00000265339.2:p.Leu9Val
ENST00000504431.1:n.15C>G (UBE2B)
ENST00000506787.5:c.22C>G (UBE2B)	ENSP00000426364.1:p.Leu8Val
ENST00000507277.1:c.17C>G (UBE2B)
ENST00000510021.5:c.25C>G (UBE2B)	ENSP00000425237.1:p.Leu9Val
ENST00000511807.1:n.119C>G (UBE2B)
NM_003337.3:c.25C>G (UBE2B)	NP_003328.1:p.Leu9Val
XM_024446093.1:c.5G>C (CDKL3)	XP_024301861.1:p.Ser2Thr
NM_003337.4:c.25C>G (UBE2B) MANE Select	NP_003328.1:p.Leu9Val