Linked Data
dbSNP Id:
rs9268480
ExAC:
6:32363844 C / T
gnomAD v2:
6-32363844-C-T
gnomAD v3:
6-32396067-C-T
gnomAD v4:
6-32396067-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32396067C>T , CM000668.2:g.32396067C>T | GRCh38 |
| NC_000006.11:g.32363844C>T , CM000668.1:g.32363844C>T | GRCh37 |
| NC_000006.10:g.32471822C>T | NCBI36 |
| NG_054759.1:g.17813G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374993.5:n.478G>A (BTNL2) | ||
| ENST00000454136.8:c.1050G>A (BTNL2) MANE Select | ENSP00000390613.3:p.Gln350= | |
| ENST00000465865.6:c.*325G>A (BTNL2) | ENSP00000420063.1:n.*325G>A | |
| ENST00000544175.3:c.*311G>A (BTNL2) | ENSP00000443364.2:n.*311G>A | |
| ENST00000374993.4:c.1050G>A (BTNL2) | ENSP00000364132.1:p.Gln350= | |
| ENST00000454136.7:c.1050G>A (BTNL2) | ENSP00000390613.3:p.Gln350= | |
| ENST00000465865.5:c.532G>A (BTNL2) | ENSP00000420063.1:n.532G>A | |
| ENST00000544175.2:c.219G>A (BTNL2) | ENSP00000443364.1:p.Gln73= | |
| NM_001304561.1:c.1050G>A (BTNL2) | NP_001291490.1:p.Gln350= | |
| XM_011514755.1:c.1050G>A (BTNL2) | XP_011513057.1:p.Gln350= | |
| XM_011514756.1:c.768G>A (BTNL2) | XP_011513058.1:p.Gln256= | |
| XM_011515039.1:c.482-9387C>T (TSBP1-AS1) | XP_011513341.1:n.482-9387C>T | |
| NR_136245.1:n.303-9387C>T (TSBP1-AS1) | ||
| XM_017011057.1:c.1050G>A (BTNL2) | XP_016866546.1:p.Gln350= | |
| NM_001304561.2:c.1050G>A (BTNL2) MANE Select | NP_001291490.1:p.Gln350= |