Linked Data
gnomAD v4:
2-240868890-A-ACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868897_240868898dup , CM000664.2:g.240868897_240868898dup | GRCh38 |
| NC_000002.11:g.241808314_241808315dup , CM000664.1:g.241808314_241808315dup | GRCh37 |
| NC_000002.10:g.241456987_241456988dup | NCBI36 |
| NG_008005.1:g.5153_5154dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.32_33dup MANE Select | ENSP00000302620.3:p.Lys12ProfsTer? | |
| ENST00000307503.3:c.32_33dup | ENSP00000302620.3:p.Lys12ProfsTer? | |
| ENST00000472436.1:n.52_53dup | ||
| NM_000030.2:c.32_33dup | NP_000021.1:p.Lys12ProfsTer? | |
| XR_924060.1:n.405+1341_405+1342dup | ||
| NM_000030.3:c.32_33dup MANE Select | NP_000021.1:p.Lys12ProfsTer? |