Linked Data
gnomAD v4:
2-240873013-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873016dup , CM000664.2:g.240873016dup | GRCh38 |
| NC_000002.11:g.241812433dup , CM000664.1:g.241812433dup | GRCh37 |
| NC_000002.10:g.241461106dup | NCBI36 |
| NG_008005.1:g.9272dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.562dup MANE Select | ENSP00000302620.3:p.Leu188ProfsTer? | |
| ENST00000307503.3:c.562dup | ENSP00000302620.3:p.Leu188ProfsTer? | |
| ENST00000472436.1:n.582dup | ||
| ENST00000476698.1:n.299dup | ||
| NM_000030.2:c.562dup | NP_000021.1:p.Leu188ProfsTer? | |
| NM_000030.3:c.562dup MANE Select | NP_000021.1:p.Leu188ProfsTer? |