Linked Data
dbSNP Id:
rs1373688317
gnomAD v2:
6-32373202-AT-A
gnomAD v3:
6-32405425-AT-A
gnomAD v4:
6-32405425-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32405426del , CM000668.2:g.32405426del | GRCh38 |
| NC_000006.11:g.32373203del , CM000668.1:g.32373203del | GRCh37 |
| NC_000006.10:g.32481181del | NCBI36 |
| NG_054759.1:g.8454del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374993.5:n.137+1619del (BTNL2) | ||
| ENST00000446536.3:c.80-143del (BTNL2) | ENSP00000388434.2:n.80-143del | |
| ENST00000454136.8:c.80-140del (BTNL2) MANE Select | ENSP00000390613.3:n.80-140del | |
| ENST00000465865.6:c.80-140del (BTNL2) | ENSP00000420063.1:n.80-140del | |
| ENST00000544175.3:c.80-140del (BTNL2) | ENSP00000443364.2:n.80-140del | |
| ENST00000374993.4:c.80-140del (BTNL2) | ENSP00000364132.1:n.80-140del | |
| ENST00000446536.2:c.80-143del (BTNL2) | ENSP00000388434.2:n.80-143del | |
| ENST00000454136.7:c.80-140del (BTNL2) | ENSP00000390613.3:n.80-140del | |
| ENST00000465865.5:c.80-140del (BTNL2) | ENSP00000420063.1:n.80-140del | |
| ENST00000544175.2:c.-229-140del (BTNL2) | ENSP00000443364.1:n.-229-140del | |
| NM_001304561.1:c.80-140del (BTNL2) | NP_001291490.1:n.80-140del | |
| XM_011514755.1:c.80-140del (BTNL2) | XP_011513057.1:n.80-140del | |
| XM_011514756.1:c.80-140del (BTNL2) | XP_011513058.1:n.80-140del | |
| XM_011515039.1:c.482-28del (TSBP1-AS1) | XP_011513341.1:n.482-28del | |
| XR_926699.1:n.104-28del (TSBP1-AS1) | ||
| NR_136245.1:n.303-28del (TSBP1-AS1) | ||
| XM_017011057.1:c.80-140del (BTNL2) | XP_016866546.1:n.80-140del | |
| NM_001304561.2:c.80-140del (BTNL2) MANE Select | NP_001291490.1:n.80-140del |