Linked Data
gnomAD v4:
2-240875960-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875961dup , CM000664.2:g.240875961dup | GRCh38 |
| NC_000002.11:g.241815378dup , CM000664.1:g.241815378dup | GRCh37 |
| NC_000002.10:g.241464051dup | NCBI36 |
| NG_008005.1:g.12217dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.803dup MANE Select | ENSP00000302620.3:p.Ser268ArgfsTer? | |
| ENST00000307503.3:c.803dup | ENSP00000302620.3:p.Ser268ArgfsTer? | |
| ENST00000476698.1:n.455dup | ||
| NM_000030.2:c.803dup | NP_000021.1:p.Ser268ArgfsTer? | |
| NM_000030.3:c.803dup MANE Select | NP_000021.1:p.Ser268ArgfsTer? |