Canonical Allele Identifier: CA1081786766

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1758378879
• gnomAD v3: 5-134371321-A-C
• gnomAD v4: 5-134371321-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371321A>C , CM000667.2:g.134371321A>C	GRCh38
NC_000005.9:g.133707012A>C , CM000667.1:g.133707012A>C	GRCh37
NC_000005.8:g.133734911A>C	NCBI36
NG_042179.2:g.4727T>G
NG_046936.1:g.5146A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507277.2:c.-275A>C (UBE2B)	ENSP00000425137.2:n.-275A>C
ENST00000265339.6:c.-275A>C (UBE2B)	ENSP00000265339.2:n.-275A>C
NM_003337.3:c.-275A>C (UBE2B)	NP_003328.1:n.-275A>C
XM_011543441.1:c.-224+77T>G (CDKL3)	XP_011541743.1:n.-224+77T>G
XM_017009544.2:c.-955T>G (CDKL3)	XP_016865033.1:n.-955T>G
XM_017009545.2:c.-760T>G (CDKL3)	XP_016865034.1:n.-760T>G
XM_024446086.1:c.-345T>G (CDKL3)	XP_024301854.1:n.-345T>G
XM_024446093.1:c.227+77T>G (CDKL3)	XP_024301861.1:n.227+77T>G
XM_024446096.1:c.-726T>G (CDKL3)	XP_024301864.1:n.-726T>G
XM_024446097.1:c.-747T>G (CDKL3)	XP_024301865.1:n.-747T>G
XM_024446099.1:c.-439+77T>G (CDKL3)	XP_024301867.1:n.-439+77T>G
XM_024446100.1:c.-547T>G (CDKL3)	XP_024301868.1:n.-547T>G
XM_024446101.1:c.-337T>G (CDKL3)	XP_024301869.1:n.-337T>G
XM_024446103.1:c.-547T>G (CDKL3)	XP_024301871.1:n.-547T>G