Linked Data
dbSNP Id:
rs17202456
ExAC:
6:32363774 G / A
gnomAD v2:
6-32363774-G-A
gnomAD v3:
6-32395997-G-A
gnomAD v4:
6-32395997-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32395997G>A , CM000668.2:g.32395997G>A | GRCh38 |
| NC_000006.11:g.32363774G>A , CM000668.1:g.32363774G>A | GRCh37 |
| NC_000006.10:g.32471752G>A | NCBI36 |
| NG_054759.1:g.17883C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374993.5:n.506+42C>T (BTNL2) | ||
| ENST00000454136.8:c.1078+42C>T (BTNL2) MANE Select | ENSP00000390613.3:n.1078+42C>T | |
| ENST00000465865.6:c.*349+46C>T (BTNL2) | ENSP00000420063.1:n.*349+46C>T | |
| ENST00000544175.3:c.*339+42C>T (BTNL2) | ENSP00000443364.2:n.*339+42C>T | |
| ENST00000374993.4:c.1078+42C>T (BTNL2) | ENSP00000364132.1:n.1078+42C>T | |
| ENST00000454136.7:c.1078+42C>T (BTNL2) | ENSP00000390613.3:n.1078+42C>T | |
| ENST00000465865.5:c.556+46C>T (BTNL2) | ENSP00000420063.1:n.556+46C>T | |
| ENST00000544175.2:c.247+42C>T (BTNL2) | ENSP00000443364.1:n.247+42C>T | |
| NM_001304561.1:c.1078+42C>T (BTNL2) | NP_001291490.1:n.1078+42C>T | |
| XM_011514755.1:c.1074+46C>T (BTNL2) | XP_011513057.1:n.1074+46C>T | |
| XM_011514756.1:c.*25C>T (BTNL2) | XP_011513058.1:n.*25C>T | |
| XM_011515039.1:c.482-9457G>A (TSBP1-AS1) | XP_011513341.1:n.482-9457G>A | |
| NR_136245.1:n.303-9457G>A (TSBP1-AS1) | ||
| XM_017011057.1:c.1078+42C>T (BTNL2) | XP_016866546.1:n.1078+42C>T | |
| NM_001304561.2:c.1078+42C>T (BTNL2) MANE Select | NP_001291490.1:n.1078+42C>T |