Canonical Allele Identifier: CA2604532874

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs2149687613
• gnomAD v3: 5-134371237-G-C
• gnomAD v4: 5-134371237-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371237G>C , CM000667.2:g.134371237G>C	GRCh38
NC_000005.9:g.133706928G>C , CM000667.1:g.133706928G>C	GRCh37
NC_000005.8:g.133734827G>C	NCBI36
NG_042179.2:g.4811C>G
NG_046936.1:g.5062G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.-359G>C (UBE2B)	ENSP00000425137.2:n.-359G>C
ENST00000265339.6:c.-359G>C (UBE2B)	ENSP00000265339.2:n.-359G>C
NM_003337.3:c.-359G>C (UBE2B)	NP_003328.1:n.-359G>C
XM_011543441.1:c.-224+161C>G (CDKL3)	XP_011541743.1:n.-224+161C>G
XM_017009544.2:c.-871C>G (CDKL3)	XP_016865033.1:n.-871C>G
XM_017009545.2:c.-676C>G (CDKL3)	XP_016865034.1:n.-676C>G
XM_024446086.1:c.-261C>G (CDKL3)	XP_024301854.1:n.-261C>G
XM_024446093.1:c.227+161C>G (CDKL3)	XP_024301861.1:n.227+161C>G
XM_024446096.1:c.-642C>G (CDKL3)	XP_024301864.1:n.-642C>G
XM_024446097.1:c.-663C>G (CDKL3)	XP_024301865.1:n.-663C>G
XM_024446099.1:c.-439+161C>G (CDKL3)	XP_024301867.1:n.-439+161C>G
XM_024446100.1:c.-463C>G (CDKL3)	XP_024301868.1:n.-463C>G
XM_024446101.1:c.-253C>G (CDKL3)	XP_024301869.1:n.-253C>G
XM_024446103.1:c.-463C>G (CDKL3)	XP_024301871.1:n.-463C>G