Canonical Allele Identifier: CA2675303539

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371236-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371236A>G , CM000667.2:g.134371236A>G	GRCh38
NC_000005.9:g.133706927A>G , CM000667.1:g.133706927A>G	GRCh37
NC_000005.8:g.133734826A>G	NCBI36
NG_042179.2:g.4812T>C
NG_046936.1:g.5061A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.-360A>G (UBE2B)	ENSP00000425137.2:n.-360A>G
ENST00000265339.6:c.-360A>G (UBE2B)	ENSP00000265339.2:n.-360A>G
NM_003337.3:c.-360A>G (UBE2B)	NP_003328.1:n.-360A>G
XM_011543441.1:c.-224+162T>C (CDKL3)	XP_011541743.1:n.-224+162T>C
XM_017009544.2:c.-870T>C (CDKL3)	XP_016865033.1:n.-870T>C
XM_017009545.2:c.-675T>C (CDKL3)	XP_016865034.1:n.-675T>C
XM_024446086.1:c.-260T>C (CDKL3)	XP_024301854.1:n.-260T>C
XM_024446093.1:c.227+162T>C (CDKL3)	XP_024301861.1:n.227+162T>C
XM_024446096.1:c.-641T>C (CDKL3)	XP_024301864.1:n.-641T>C
XM_024446097.1:c.-662T>C (CDKL3)	XP_024301865.1:n.-662T>C
XM_024446099.1:c.-439+162T>C (CDKL3)	XP_024301867.1:n.-439+162T>C
XM_024446100.1:c.-462T>C (CDKL3)	XP_024301868.1:n.-462T>C
XM_024446101.1:c.-252T>C (CDKL3)	XP_024301869.1:n.-252T>C
XM_024446103.1:c.-462T>C (CDKL3)	XP_024301871.1:n.-462T>C