Canonical Allele Identifier: CA563032544

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1344561139
• gnomAD v2: 5-133707361-G-T
• gnomAD v4: 5-134371670-G-T
• MyVariant Identifiers: chr5:g.133707361G>T (hg19) ; chr5:g.134371670G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371670G>T , CM000667.2:g.134371670G>T	GRCh38
NC_000005.9:g.133707361G>T , CM000667.1:g.133707361G>T	GRCh37
NC_000005.8:g.133735260G>T	NCBI36
NG_042179.2:g.4378C>A
NG_046936.1:g.5495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.44+31G>T (UBE2B)	ENSP00000425137.2:n.44+31G>T
ENST00000265339.7:c.44+31G>T (UBE2B) MANE Select	ENSP00000265339.2:n.44+31G>T
ENST00000265339.6:c.44+31G>T (UBE2B)	ENSP00000265339.2:n.44+31G>T
ENST00000504431.1:n.34+31G>T (UBE2B)
ENST00000506787.5:c.41+31G>T (UBE2B)	ENSP00000426364.1:n.41+31G>T
ENST00000507277.1:c.36+31G>T (UBE2B)
ENST00000510021.5:c.44+31G>T (UBE2B)	ENSP00000425237.1:n.44+31G>T
ENST00000511807.1:n.138+31G>T (UBE2B)
NM_003337.3:c.44+31G>T (UBE2B)	NP_003328.1:n.44+31G>T
XM_024446093.1:c.-46C>A (CDKL3)	XP_024301861.1:n.-46C>A
NM_003337.4:c.44+31G>T (UBE2B) MANE Select	NP_003328.1:n.44+31G>T