Canonical Allele Identifier: CA361462062

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1758424398
• gnomAD v4: 5-134371629-G-A
• MyVariant Identifiers: chr5:g.133707320G>A (hg19) ; chr5:g.134371629G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371629G>A , CM000667.2:g.134371629G>A	GRCh38
NC_000005.9:g.133707320G>A , CM000667.1:g.133707320G>A	GRCh37
NC_000005.8:g.133735219G>A	NCBI36
NG_042179.2:g.4419C>T
NG_046936.1:g.5454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.34G>A (UBE2B)	ENSP00000425137.2:p.Asp12Asn
ENST00000265339.7:c.34G>A (UBE2B) MANE Select	ENSP00000265339.2:p.Asp12Asn
ENST00000265339.6:c.34G>A (UBE2B)	ENSP00000265339.2:p.Asp12Asn
ENST00000504431.1:n.24G>A (UBE2B)
ENST00000506787.5:c.31G>A (UBE2B)	ENSP00000426364.1:p.Asp11Asn
ENST00000507277.1:c.26G>A (UBE2B)
ENST00000510021.5:c.34G>A (UBE2B)	ENSP00000425237.1:p.Asp12Asn
ENST00000511807.1:n.128G>A (UBE2B)
NM_003337.3:c.34G>A (UBE2B)	NP_003328.1:p.Asp12Asn
XM_024446093.1:c.-5C>T (CDKL3)	XP_024301861.1:n.-5C>T
NM_003337.4:c.34G>A (UBE2B) MANE Select	NP_003328.1:p.Asp12Asn