Canonical Allele Identifier: CA446650585

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1561676187
• gnomAD v4: 5-134371637-G-A
• MyVariant Identifiers: chr5:g.133707328G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371637G>A , CM000667.2:g.134371637G>A	GRCh38
NC_000005.9:g.133707328G>A , CM000667.1:g.133707328G>A	GRCh37
NC_000005.8:g.133735227G>A	NCBI36
NG_042179.2:g.4411C>T
NG_046936.1:g.5462G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.42G>A (UBE2B)	ENSP00000425137.2:p.Lys14=
ENST00000265339.7:c.42G>A (UBE2B) MANE Select	ENSP00000265339.2:p.Lys14=
ENST00000265339.6:c.42G>A (UBE2B)	ENSP00000265339.2:p.Lys14=
ENST00000504431.1:n.32G>A (UBE2B)
ENST00000506787.5:c.39G>A (UBE2B)	ENSP00000426364.1:p.Lys13=
ENST00000507277.1:c.34G>A (UBE2B)
ENST00000510021.5:c.42G>A (UBE2B)	ENSP00000425237.1:p.Lys14=
ENST00000511807.1:n.136G>A (UBE2B)
NM_003337.3:c.42G>A (UBE2B)	NP_003328.1:p.Lys14=
XM_024446093.1:c.-13C>T (CDKL3)	XP_024301861.1:n.-13C>T
NM_003337.4:c.42G>A (UBE2B) MANE Select	NP_003328.1:p.Lys14=