Canonical Allele Identifier: CA1081787150

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1758425852
• gnomAD v3: 5-134371646-G-T
• gnomAD v4: 5-134371646-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371646G>T , CM000667.2:g.134371646G>T	GRCh38
NC_000005.9:g.133707337G>T , CM000667.1:g.133707337G>T	GRCh37
NC_000005.8:g.133735236G>T	NCBI36
NG_042179.2:g.4402C>A
NG_046936.1:g.5471G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+7G>T (UBE2B)	ENSP00000425137.2:n.44+7G>T
ENST00000265339.7:c.44+7G>T (UBE2B) MANE Select	ENSP00000265339.2:n.44+7G>T
ENST00000265339.6:c.44+7G>T (UBE2B)	ENSP00000265339.2:n.44+7G>T
ENST00000504431.1:n.34+7G>T (UBE2B)
ENST00000506787.5:c.41+7G>T (UBE2B)	ENSP00000426364.1:n.41+7G>T
ENST00000507277.1:c.36+7G>T (UBE2B)
ENST00000510021.5:c.44+7G>T (UBE2B)	ENSP00000425237.1:n.44+7G>T
ENST00000511807.1:n.138+7G>T (UBE2B)
NM_003337.3:c.44+7G>T (UBE2B)	NP_003328.1:n.44+7G>T
XM_024446093.1:c.-22C>A (CDKL3)	XP_024301861.1:n.-22C>A
NM_003337.4:c.44+7G>T (UBE2B) MANE Select	NP_003328.1:n.44+7G>T