Linked Data
gnomAD v4:
2-240873884-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873885dup , CM000664.2:g.240873885dup | GRCh38 |
| NC_000002.11:g.241813302dup , CM000664.1:g.241813302dup | GRCh37 |
| NC_000002.10:g.241461975dup | NCBI36 |
| NG_008005.1:g.10141dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.596-93dup MANE Select | ENSP00000302620.3:n.596-93dup | |
| ENST00000307503.3:c.596-93dup | ENSP00000302620.3:n.596-93dup | |
| ENST00000476698.1:n.332+836dup | ||
| NM_000030.2:c.596-93dup | NP_000021.1:n.596-93dup | |
| NM_000030.3:c.596-93dup MANE Select | NP_000021.1:n.596-93dup |