Linked Data
gnomAD v4:
2-219060583-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219060588dup , CM000664.2:g.219060588dup | GRCh38 |
| NC_000002.11:g.219925310dup , CM000664.1:g.219925310dup | GRCh37 |
| NC_000002.10:g.219633554dup | NCBI36 |
| NG_016741.1:g.4933dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295731.7:c.-117dup MANE Select | ENSP00000295731.5:n.-117dup | |
| NM_002181.4:c.-117dup MANE Select | NP_002172.2:n.-117dup |