Linked Data
gnomAD v4:
2-189005327-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189005332del , CM000664.2:g.189005332del | GRCh38 |
| NC_000002.11:g.189870058del , CM000664.1:g.189870058del | GRCh37 |
| NC_000002.10:g.189578303del | NCBI36 |
| NG_007404.1:g.35960del , LRG_3:g.35960del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2833-18del | ENSP00000415346.2:n.2833-18del | |
| ENST00000304636.9:c.2932-18del MANE Select | ENSP00000304408.4:n.2932-18del | |
| ENST00000304636.7:c.2932-18del | ENSP00000304408.3:n.2932-18del | |
| ENST00000317840.9:c.2527+2296del | ENSP00000315243.6:n.2527+2296del | |
| NM_000090.3:c.2932-18del , LRG_3t1:c.2932-18del | NP_000081.1:n.2932-18del | |
| NM_000090.4:c.2932-18del MANE Select | NP_000081.2:n.2932-18del |