Canonical Allele Identifier: CA2675303529

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371227-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371227A>C , CM000667.2:g.134371227A>C	GRCh38
NC_000005.9:g.133706918A>C , CM000667.1:g.133706918A>C	GRCh37
NC_000005.8:g.133734817A>C	NCBI36
NG_042179.2:g.4821T>G
NG_046936.1:g.5052A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.-369A>C (UBE2B)	ENSP00000425137.2:n.-369A>C
ENST00000265339.6:c.-369A>C (UBE2B)	ENSP00000265339.2:n.-369A>C
NM_003337.3:c.-369A>C (UBE2B)	NP_003328.1:n.-369A>C
XM_011543441.1:c.-224+171T>G (CDKL3)	XP_011541743.1:n.-224+171T>G
XM_017009544.2:c.-861T>G (CDKL3)	XP_016865033.1:n.-861T>G
XM_017009545.2:c.-666T>G (CDKL3)	XP_016865034.1:n.-666T>G
XM_024446086.1:c.-251T>G (CDKL3)	XP_024301854.1:n.-251T>G
XM_024446093.1:c.227+171T>G (CDKL3)	XP_024301861.1:n.227+171T>G
XM_024446096.1:c.-632T>G (CDKL3)	XP_024301864.1:n.-632T>G
XM_024446097.1:c.-653T>G (CDKL3)	XP_024301865.1:n.-653T>G
XM_024446099.1:c.-439+171T>G (CDKL3)	XP_024301867.1:n.-439+171T>G
XM_024446100.1:c.-453T>G (CDKL3)	XP_024301868.1:n.-453T>G
XM_024446101.1:c.-243T>G (CDKL3)	XP_024301869.1:n.-243T>G
XM_024446103.1:c.-453T>G (CDKL3)	XP_024301871.1:n.-453T>G