Canonical Allele Identifier: CA563032387

Gene: UBE2B CDKL3

Linked Data

• dbSNP Id: rs1341630378
• gnomAD v2: 5-133706919-G-T
• gnomAD v3: 5-134371228-G-T
• gnomAD v4: 5-134371228-G-T
• MyVariant Identifiers: chr5:g.133706919G>T (hg19) ; chr5:g.134371228G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.134371228G>T , CM000667.2:g.134371228G>T	GRCh38
NC_000005.9:g.133706919G>T , CM000667.1:g.133706919G>T	GRCh37
NC_000005.8:g.133734818G>T	NCBI36
NG_042179.2:g.4820C>A
NG_046936.1:g.5053G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507277.2:c.-368G>T (UBE2B)	ENSP00000425137.2:n.-368G>T
ENST00000265339.6:c.-368G>T (UBE2B)	ENSP00000265339.2:n.-368G>T
NM_003337.3:c.-368G>T (UBE2B)	NP_003328.1:n.-368G>T
XM_011543441.1:c.-224+170C>A (CDKL3)	XP_011541743.1:n.-224+170C>A
XM_017009544.2:c.-862C>A (CDKL3)	XP_016865033.1:n.-862C>A
XM_017009545.2:c.-667C>A (CDKL3)	XP_016865034.1:n.-667C>A
XM_024446086.1:c.-252C>A (CDKL3)	XP_024301854.1:n.-252C>A
XM_024446093.1:c.227+170C>A (CDKL3)	XP_024301861.1:n.227+170C>A
XM_024446096.1:c.-633C>A (CDKL3)	XP_024301864.1:n.-633C>A
XM_024446097.1:c.-654C>A (CDKL3)	XP_024301865.1:n.-654C>A
XM_024446099.1:c.-439+170C>A (CDKL3)	XP_024301867.1:n.-439+170C>A
XM_024446100.1:c.-454C>A (CDKL3)	XP_024301868.1:n.-454C>A
XM_024446101.1:c.-244C>A (CDKL3)	XP_024301869.1:n.-244C>A
XM_024446103.1:c.-454C>A (CDKL3)	XP_024301871.1:n.-454C>A