Canonical Allele Identifier: CA361461999

Gene: UBE2B CDKL3

Linked Data

• MyVariant Identifiers: chr5:g.133707310G>C (hg19) ; chr5:g.134371619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371619G>C , CM000667.2:g.134371619G>C	GRCh38
NC_000005.9:g.133707310G>C , CM000667.1:g.133707310G>C	GRCh37
NC_000005.8:g.133735209G>C	NCBI36
NG_042179.2:g.4429C>G
NG_046936.1:g.5444G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.24G>C (UBE2B)	ENSP00000425137.2:p.Arg8Ser
ENST00000265339.7:c.24G>C (UBE2B) MANE Select	ENSP00000265339.2:p.Arg8Ser
ENST00000265339.6:c.24G>C (UBE2B)	ENSP00000265339.2:p.Arg8Ser
ENST00000504431.1:n.14G>C (UBE2B)
ENST00000506787.5:c.21G>C (UBE2B)	ENSP00000426364.1:p.Arg7Ser
ENST00000507277.1:c.16G>C (UBE2B)
ENST00000510021.5:c.24G>C (UBE2B)	ENSP00000425237.1:p.Arg8Ser
ENST00000511807.1:n.118G>C (UBE2B)
NM_003337.3:c.24G>C (UBE2B)	NP_003328.1:p.Arg8Ser
XM_024446093.1:c.6C>G (CDKL3)	XP_024301861.1:p.Ser2Arg
NM_003337.4:c.24G>C (UBE2B) MANE Select	NP_003328.1:p.Arg8Ser