Canonical Allele Identifier: CA1584036720

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1758369067
• gnomAD v3: 5-134371226-G-A
• gnomAD v4: 5-134371226-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371226G>A , CM000667.2:g.134371226G>A	GRCh38
NC_000005.9:g.133706917G>A , CM000667.1:g.133706917G>A	GRCh37
NC_000005.8:g.133734816G>A	NCBI36
NG_042179.2:g.4822C>T
NG_046936.1:g.5051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.-370G>A (UBE2B)	ENSP00000425137.2:n.-370G>A
ENST00000265339.6:c.-370G>A (UBE2B)	ENSP00000265339.2:n.-370G>A
NM_003337.3:c.-370G>A (UBE2B)	NP_003328.1:n.-370G>A
XM_011543441.1:c.-224+172C>T (CDKL3)	XP_011541743.1:n.-224+172C>T
XM_017009544.2:c.-860C>T (CDKL3)	XP_016865033.1:n.-860C>T
XM_017009545.2:c.-665C>T (CDKL3)	XP_016865034.1:n.-665C>T
XM_024446086.1:c.-250C>T (CDKL3)	XP_024301854.1:n.-250C>T
XM_024446093.1:c.227+172C>T (CDKL3)	XP_024301861.1:n.227+172C>T
XM_024446096.1:c.-631C>T (CDKL3)	XP_024301864.1:n.-631C>T
XM_024446097.1:c.-652C>T (CDKL3)	XP_024301865.1:n.-652C>T
XM_024446099.1:c.-439+172C>T (CDKL3)	XP_024301867.1:n.-439+172C>T
XM_024446100.1:c.-452C>T (CDKL3)	XP_024301868.1:n.-452C>T
XM_024446101.1:c.-242C>T (CDKL3)	XP_024301869.1:n.-242C>T
XM_024446103.1:c.-452C>T (CDKL3)	XP_024301871.1:n.-452C>T