Canonical Allele Identifier: CA563032547

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1191637731
• gnomAD v2: 5-133707395-C-A
• gnomAD v3: 5-134371704-C-A
• gnomAD v4: 5-134371704-C-A
• MyVariant Identifiers: chr5:g.133707395C>A (hg19) ; chr5:g.134371704C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371704C>A , CM000667.2:g.134371704C>A	GRCh38
NC_000005.9:g.133707395C>A , CM000667.1:g.133707395C>A	GRCh37
NC_000005.8:g.133735294C>A	NCBI36
NG_042179.2:g.4344G>T
NG_046936.1:g.5529C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+65C>A (UBE2B)	ENSP00000425137.2:n.44+65C>A
ENST00000265339.7:c.44+65C>A (UBE2B) MANE Select	ENSP00000265339.2:n.44+65C>A
ENST00000265339.6:c.44+65C>A (UBE2B)	ENSP00000265339.2:n.44+65C>A
ENST00000504431.1:n.34+65C>A (UBE2B)
ENST00000506787.5:c.41+65C>A (UBE2B)	ENSP00000426364.1:n.41+65C>A
ENST00000507277.1:c.36+65C>A (UBE2B)
ENST00000510021.5:c.44+65C>A (UBE2B)	ENSP00000425237.1:n.44+65C>A
ENST00000511807.1:n.138+65C>A (UBE2B)
NM_003337.3:c.44+65C>A (UBE2B)	NP_003328.1:n.44+65C>A
XM_024446093.1:c.-80G>T (CDKL3)	XP_024301861.1:n.-80G>T
NM_003337.4:c.44+65C>A (UBE2B) MANE Select	NP_003328.1:n.44+65C>A