Canonical Allele Identifier: CA232413

Gene: UBE2B CDKL3

Linked Data

• ClinVar Variation Id: 135630
• ClinVar RCV Id: RCV000122603
• dbSNP Id: rs367537996
• MyVariant Identifiers: chr5:g.133707309G>C (hg19) ; chr5:g.134371618G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371618G>C , CM000667.2:g.134371618G>C	GRCh38
NC_000005.9:g.133707309G>C , CM000667.1:g.133707309G>C	GRCh37
NC_000005.8:g.133735208G>C	NCBI36
NG_042179.2:g.4430C>G
NG_046936.1:g.5443G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507277.2:c.23G>C (UBE2B)	ENSP00000425137.2:p.Arg8Thr
ENST00000265339.7:c.23G>C (UBE2B) MANE Select	ENSP00000265339.2:p.Arg8Thr
ENST00000265339.6:c.23G>C (UBE2B)	ENSP00000265339.2:p.Arg8Thr
ENST00000504431.1:n.13G>C (UBE2B)
ENST00000506787.5:c.20G>C (UBE2B)	ENSP00000426364.1:p.Arg7Thr
ENST00000507277.1:c.15G>C (UBE2B)
ENST00000510021.5:c.23G>C (UBE2B)	ENSP00000425237.1:p.Arg8Thr
ENST00000511807.1:n.117G>C (UBE2B)
NM_003337.3:c.23G>C (UBE2B)	NP_003328.1:p.Arg8Thr
XM_024446093.1:c.7C>G (CDKL3)	XP_024301861.1:p.Leu3Val
NM_003337.4:c.23G>C (UBE2B) MANE Select	NP_003328.1:p.Arg8Thr