Linked Data
dbSNP Id:
rs1169425974
gnomAD v2:
1-218518888-GC-G
gnomAD v3:
1-218345546-GC-G
gnomAD v4:
1-218345546-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218345547del , CM000663.2:g.218345547del | GRCh38 |
| NC_000001.10:g.218518889del , CM000663.1:g.218518889del | GRCh37 |
| NC_000001.9:g.216585512del | NCBI36 |
| NG_027721.1:g.5214del | |
| NG_027721.2:g.5214del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.-1155del (TGFB2) MANE Select | ENSP00000355897.4:n.-1155del | |
| NM_001135599.2:c.-1155del (TGFB2) | NP_001129071.1:n.-1155del | |
| NM_003238.3:c.-1155del (TGFB2) | NP_003229.1:n.-1155del | |
| NR_046268.1:n.76+56del (TGFB2-AS1) | ||
| NM_001135599.3:c.-1155del (TGFB2) | NP_001129071.1:n.-1155del | |
| NM_003238.4:c.-1155del (TGFB2) | NP_003229.1:n.-1155del | |
| NR_138148.1:n.264del (TGFB2) | ||
| NR_138149.1:n.264del (TGFB2) | ||
| NM_003238.5:c.-1155del (TGFB2) | NP_003229.1:n.-1155del | |
| NM_003238.6:c.-1155del (TGFB2) MANE Select | NP_003229.1:n.-1155del | |
| NM_001135599.4:c.-1155del (TGFB2) | NP_001129071.1:n.-1155del | |
| NR_138148.2:n.212del (TGFB2) | ||
| NR_138149.2:n.212del (TGFB2) |