Linked Data
dbSNP Id:
rs752739060
ExAC:
5:133707317 C / A
gnomAD v2:
5-133707317-C-A
gnomAD v4:
5-134371626-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134371626C>A , CM000667.2:g.134371626C>A | GRCh38 |
| NC_000005.9:g.133707317C>A , CM000667.1:g.133707317C>A | GRCh37 |
| NC_000005.8:g.133735216C>A | NCBI36 |
| NG_042179.2:g.4422G>T | |
| NG_046936.1:g.5451C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507277.2:c.31C>A (UBE2B) | ENSP00000425137.2:p.Arg11= | |
| ENST00000265339.7:c.31C>A (UBE2B) MANE Select | ENSP00000265339.2:p.Arg11= | |
| ENST00000265339.6:c.31C>A (UBE2B) | ENSP00000265339.2:p.Arg11= | |
| ENST00000504431.1:n.21C>A (UBE2B) | ||
| ENST00000506787.5:c.28C>A (UBE2B) | ENSP00000426364.1:p.Arg10= | |
| ENST00000507277.1:c.23C>A (UBE2B) | ||
| ENST00000510021.5:c.31C>A (UBE2B) | ENSP00000425237.1:p.Arg11= | |
| ENST00000511807.1:n.125C>A (UBE2B) | ||
| NM_003337.3:c.31C>A (UBE2B) | NP_003328.1:p.Arg11= | |
| XM_024446093.1:c.-2G>T (CDKL3) | XP_024301861.1:n.-2G>T | |
| NM_003337.4:c.31C>A (UBE2B) MANE Select | NP_003328.1:p.Arg11= |