gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.15109528 (NFE)
Genomes Max Group AF
0.15109528 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32395438T>C , CM000668.2:g.32395438T>C | GRCh38 |
| NC_000006.11:g.32363215T>C , CM000668.1:g.32363215T>C | GRCh37 |
| NC_000006.10:g.32471193T>C | NCBI36 |
| NG_054759.1:g.18442A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374993.5:n.507-413A>G (BTNL2) | ||
| ENST00000454136.8:c.1079-413A>G (BTNL2) MANE Select | ENSP00000390613.3:n.1079-413A>G | |
| ENST00000465865.6:c.*350-413A>G (BTNL2) | ENSP00000420063.1:n.*350-413A>G | |
| ENST00000544175.3:c.*340-413A>G (BTNL2) | ENSP00000443364.2:n.*340-413A>G | |
| ENST00000374993.4:c.1079-413A>G (BTNL2) | ENSP00000364132.1:n.1079-413A>G | |
| ENST00000454136.7:c.1079-413A>G (BTNL2) | ENSP00000390613.3:n.1079-413A>G | |
| ENST00000465865.5:c.557-413A>G (BTNL2) | ENSP00000420063.1:n.557-413A>G | |
| ENST00000544175.2:c.248-413A>G (BTNL2) | ENSP00000443364.1:n.248-413A>G | |
| NM_001304561.1:c.1079-413A>G (BTNL2) | NP_001291490.1:n.1079-413A>G | |
| XM_011514755.1:c.1075-413A>G (BTNL2) | XP_011513057.1:n.1075-413A>G | |
| XM_011514756.1:c.*584A>G (BTNL2) | XP_011513058.1:n.*584A>G | |
| XM_011515039.1:c.482-10016T>C (TSBP1-AS1) | XP_011513341.1:n.482-10016T>C | |
| NR_136245.1:n.303-10016T>C (TSBP1-AS1) | ||
| XM_017011057.1:c.1079-413A>G (BTNL2) | XP_016866546.1:n.1079-413A>G | |
| NM_001304561.2:c.1079-413A>G (BTNL2) MANE Select | NP_001291490.1:n.1079-413A>G |