Linked Data
MyVariant Identifiers:
chr2:g.241808673_241808685del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869256_240869268del , CM000664.2:g.240869256_240869268del | GRCh38 |
| NC_000002.11:g.241808673_241808685del , CM000664.1:g.241808673_241808685del | GRCh37 |
| NC_000002.10:g.241457346_241457358del | NCBI36 |
| NG_008005.1:g.5512_5524del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.252_264del MANE Select | ENSP00000302620.3:p.Cys84TrpfsTer? | |
| ENST00000307503.3:c.252_264del | ENSP00000302620.3:p.Cys84TrpfsTer? | |
| ENST00000472436.1:n.272_284del | ||
| NM_000030.2:c.252_264del | NP_000021.1:p.Cys84TrpfsTer? | |
| XR_924060.1:n.405+965_405+977del | ||
| NM_000030.3:c.252_264del MANE Select | NP_000021.1:p.Cys84TrpfsTer? |