Canonical Allele Identifier: CA361462027

Gene: UBE2B CDKL3

Linked Data

• gnomAD v4: 5-134371623-A-T
• MyVariant Identifiers: chr5:g.133707314A>T (hg19) ; chr5:g.134371623A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371623A>T , CM000667.2:g.134371623A>T	GRCh38
NC_000005.9:g.133707314A>T , CM000667.1:g.133707314A>T	GRCh37
NC_000005.8:g.133735213A>T	NCBI36
NG_042179.2:g.4425T>A
NG_046936.1:g.5448A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.28A>T (UBE2B)	ENSP00000425137.2:p.Met10Leu
ENST00000265339.7:c.28A>T (UBE2B) MANE Select	ENSP00000265339.2:p.Met10Leu
ENST00000265339.6:c.28A>T (UBE2B)	ENSP00000265339.2:p.Met10Leu
ENST00000504431.1:n.18A>T (UBE2B)
ENST00000506787.5:c.25A>T (UBE2B)	ENSP00000426364.1:p.Met9Leu
ENST00000507277.1:c.20A>T (UBE2B)
ENST00000510021.5:c.28A>T (UBE2B)	ENSP00000425237.1:p.Met10Leu
ENST00000511807.1:n.122A>T (UBE2B)
NM_003337.3:c.28A>T (UBE2B)	NP_003328.1:p.Met10Leu
XM_024446093.1:c.2T>A (CDKL3)	XP_024301861.1:p.Met1Lys
NM_003337.4:c.28A>T (UBE2B) MANE Select	NP_003328.1:p.Met10Leu