Linked Data
ClinVar Variation Id:
306566
ClinVar RCV Id:
RCV000315583
dbSNP Id:
rs533676532
gnomAD v2:
11-9801590-C-G
gnomAD v3:
11-9780043-C-G
gnomAD v4:
11-9780043-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.9780043C>G , CM000673.2:g.9780043C>G | GRCh38 |
| NC_000011.9:g.9801590C>G , CM000673.1:g.9801590C>G | GRCh37 |
| NC_000011.8:g.9758166C>G | NCBI36 |
| NG_008074.1:g.519165G>C , LRG_267:g.519165G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524961.6:n.2409G>C (SBF2) | ||
| ENST00000675281.2:c.*375G>C (SBF2) | ENSP00000502491.1:n.*375G>C | |
| ENST00000676324.2:c.*2233G>C (SBF2) | ENSP00000502578.1:n.*2233G>C | |
| ENST00000676387.2:c.*375G>C (SBF2) | ENSP00000502779.1:n.*375G>C | |
| ENST00000688344.1:c.5532G>C (SBF2) | ENSP00000509987.1:n.5532G>C | |
| ENST00000689128.1:c.*375G>C (SBF2) | ENSP00000509587.1:n.*375G>C | |
| ENST00000689258.1:c.*375G>C (SBF2) | ENSP00000510475.1:n.*375G>C | |
| ENST00000689342.1:c.2091G>C (SBF2) | ||
| ENST00000689356.1:n.3096G>C (SBF2) | ||
| ENST00000689940.1:c.*375G>C (SBF2) | ENSP00000508452.1:n.*375G>C | |
| ENST00000690437.1:n.1874G>C (SBF2) | ||
| ENST00000690944.1:c.2005G>C (SBF2) | ||
| ENST00000691616.1:n.2401G>C (SBF2) | ||
| ENST00000692716.1:c.*375G>C (SBF2) | ENSP00000509545.1:n.*375G>C | |
| ENST00000693541.1:n.2844G>C (SBF2) | ||
| ENST00000256190.13:c.*375G>C (SBF2) MANE Select | ENSP00000256190.8:n.*375G>C | |
| ENST00000675281.1:c.*375G>C (SBF2) | ENSP00000502491.1:n.*375G>C | |
| ENST00000676324.1:c.*2233G>C (SBF2) | ENSP00000502578.1:n.*2233G>C | |
| ENST00000676387.1:c.*375G>C (SBF2) | ENSP00000502779.1:n.*375G>C | |
| ENST00000256190.12:c.*375G>C (SBF2) | ENSP00000256190.8:n.*375G>C | |
| ENST00000525040.5:n.1228G>C (SBF2) | ||
| ENST00000617179.4:c.5784G>C (SBF2) | ENSP00000482806.1:n.5784G>C | |
| NM_030962.3:c.*375G>C , LRG_267t1:c.*375G>C (SBF2) | NP_112224.1:n.*375G>C | |
| NR_036485.1:n.211+21540C>G (SBF2-AS1) | ||
| XM_005253154.3:c.*375G>C (SBF2) | XP_005253211.1:n.*375G>C | |
| XM_005253155.3:c.*375G>C (SBF2) | XP_005253212.1:n.*375G>C | |
| XM_011520394.1:c.*375G>C (SBF2) | XP_011518696.1:n.*375G>C | |
| XM_005253154.5:c.*375G>C (SBF2) | XP_005253211.1:n.*375G>C | |
| XM_005253155.5:c.*375G>C (SBF2) | XP_005253212.1:n.*375G>C | |
| XM_011520394.3:c.*375G>C (SBF2) | XP_011518696.1:n.*375G>C | |
| XM_017018372.2:c.*375G>C (SBF2) | XP_016873861.1:n.*375G>C | |
| XM_017018373.2:c.*375G>C (SBF2) | XP_016873862.1:n.*375G>C | |
| XM_017018374.2:c.*375G>C (SBF2) | XP_016873863.1:n.*375G>C | |
| XM_017018375.2:c.*375G>C (SBF2) | XP_016873864.1:n.*375G>C | |
| XR_001747994.2:n.6032G>C (SBF2) | ||
| NM_001386339.1:c.*375G>C (SBF2) | NP_001373268.1:n.*375G>C | |
| NM_001386342.1:c.*375G>C (SBF2) | NP_001373271.1:n.*375G>C | |
| NM_030962.4:c.*375G>C (SBF2) MANE Select | NP_112224.1:n.*375G>C |