Canonical Allele Identifier: CA2675303610

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371317-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371317G>A , CM000667.2:g.134371317G>A	GRCh38
NC_000005.9:g.133707008G>A , CM000667.1:g.133707008G>A	GRCh37
NC_000005.8:g.133734907G>A	NCBI36
NG_042179.2:g.4731C>T
NG_046936.1:g.5142G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000507277.2:c.-279G>A (UBE2B)	ENSP00000425137.2:n.-279G>A
ENST00000265339.6:c.-279G>A (UBE2B)	ENSP00000265339.2:n.-279G>A
NM_003337.3:c.-279G>A (UBE2B)	NP_003328.1:n.-279G>A
XM_011543441.1:c.-224+81C>T (CDKL3)	XP_011541743.1:n.-224+81C>T
XM_017009544.2:c.-951C>T (CDKL3)	XP_016865033.1:n.-951C>T
XM_017009545.2:c.-756C>T (CDKL3)	XP_016865034.1:n.-756C>T
XM_024446086.1:c.-341C>T (CDKL3)	XP_024301854.1:n.-341C>T
XM_024446093.1:c.227+81C>T (CDKL3)	XP_024301861.1:n.227+81C>T
XM_024446096.1:c.-722C>T (CDKL3)	XP_024301864.1:n.-722C>T
XM_024446097.1:c.-743C>T (CDKL3)	XP_024301865.1:n.-743C>T
XM_024446099.1:c.-439+81C>T (CDKL3)	XP_024301867.1:n.-439+81C>T
XM_024446100.1:c.-543C>T (CDKL3)	XP_024301868.1:n.-543C>T
XM_024446101.1:c.-333C>T (CDKL3)	XP_024301869.1:n.-333C>T
XM_024446103.1:c.-543C>T (CDKL3)	XP_024301871.1:n.-543C>T