gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1250495 (AMR)
Genomes Max Group AF
0.1250495 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32400220T>A , CM000668.2:g.32400220T>A | GRCh38 |
| NC_000006.11:g.32367997T>A , CM000668.1:g.32367997T>A | GRCh37 |
| NC_000006.10:g.32475975T>A | NCBI36 |
| NG_054759.1:g.13660A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374993.5:n.158+1565A>T (BTNL2) | ||
| ENST00000454136.8:c.730+1565A>T (BTNL2) MANE Select | ENSP00000390613.3:n.730+1565A>T | |
| ENST00000465865.6:c.*5+1565A>T (BTNL2) | ENSP00000420063.1:n.*5+1565A>T | |
| ENST00000544175.3:c.207+1565A>T (BTNL2) | ENSP00000443364.2:n.207+1565A>T | |
| ENST00000374993.4:c.730+1565A>T (BTNL2) | ENSP00000364132.1:n.730+1565A>T | |
| ENST00000454136.7:c.730+1565A>T (BTNL2) | ENSP00000390613.3:n.730+1565A>T | |
| ENST00000465865.5:c.212+1565A>T (BTNL2) | ENSP00000420063.1:n.212+1565A>T | |
| ENST00000544175.2:c.-102+1565A>T (BTNL2) | ENSP00000443364.1:n.-102+1565A>T | |
| NM_001304561.1:c.730+1565A>T (BTNL2) | NP_001291490.1:n.730+1565A>T | |
| XM_011514755.1:c.730+1565A>T (BTNL2) | XP_011513057.1:n.730+1565A>T | |
| XM_011514756.1:c.448+1565A>T (BTNL2) | XP_011513058.1:n.448+1565A>T | |
| XM_011515039.1:c.482-5234T>A (TSBP1-AS1) | XP_011513341.1:n.482-5234T>A | |
| NR_136245.1:n.303-5234T>A (TSBP1-AS1) | ||
| XM_017011057.1:c.730+1565A>T (BTNL2) | XP_016866546.1:n.730+1565A>T | |
| NM_001304561.2:c.730+1565A>T (BTNL2) MANE Select | NP_001291490.1:n.730+1565A>T |