Linked Data
dbSNP Id:
rs2076530
ExAC:
6:32363816 T / C
gnomAD v2:
6-32363816-T-C
gnomAD v3:
6-32396039-T-C
gnomAD v4:
6-32396039-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32396039T>C , CM000668.2:g.32396039T>C | GRCh38 |
| NC_000006.11:g.32363816T>C , CM000668.1:g.32363816T>C | GRCh37 |
| NC_000006.10:g.32471794T>C | NCBI36 |
| NG_054759.1:g.17841A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374993.5:n.506A>G (BTNL2) | ||
| ENST00000454136.8:c.1078A>G (BTNL2) MANE Select | ENSP00000390613.3:p.Ser360Gly | |
| ENST00000465865.6:c.*349+4A>G (BTNL2) | ENSP00000420063.1:n.*349+4A>G | |
| ENST00000544175.3:c.*339A>G (BTNL2) | ENSP00000443364.2:n.*339A>G | |
| ENST00000374993.4:c.1078A>G (BTNL2) | ENSP00000364132.1:p.Ser360Gly | |
| ENST00000454136.7:c.1078A>G (BTNL2) | ENSP00000390613.3:p.Ser360Gly | |
| ENST00000465865.5:c.556+4A>G (BTNL2) | ENSP00000420063.1:n.556+4A>G | |
| ENST00000544175.2:c.247A>G (BTNL2) | ENSP00000443364.1:p.Ser83Gly | |
| NM_001304561.1:c.1078A>G (BTNL2) | NP_001291490.1:p.Ser360Gly | |
| XM_011514755.1:c.1074+4A>G (BTNL2) | XP_011513057.1:n.1074+4A>G | |
| XM_011514756.1:c.796A>G (BTNL2) | XP_011513058.1:p.Ser266Gly | |
| XM_011515039.1:c.482-9415T>C (TSBP1-AS1) | XP_011513341.1:n.482-9415T>C | |
| NR_136245.1:n.303-9415T>C (TSBP1-AS1) | ||
| XM_017011057.1:c.1078A>G (BTNL2) | XP_016866546.1:p.Ser360Gly | |
| NM_001304561.2:c.1078A>G (BTNL2) MANE Select | NP_001291490.1:p.Ser360Gly |