Linked Data
MyVariant Identifiers:
chr2:g.208994186_208994203del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208129464_208129481del , CM000664.2:g.208129464_208129481del | GRCh38 |
| NC_000002.11:g.208994188_208994205del , CM000664.1:g.208994188_208994205del | GRCh37 |
| NC_000002.10:g.208702433_208702450del | NCBI36 |
| NG_008038.1:g.5352_5369del | |
| NG_008039.1:g.111_128del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282141.4:c.214_231del MANE Select | ENSP00000282141.3:p.Leu72_Arg77del | |
| ENST00000282141.3:c.214_231del | ENSP00000282141.3:p.Leu72_Arg77del | |
| NM_020989.3:c.214_231del | NP_066269.1:p.Leu72_Arg77del | |
| NR_038437.1:n.98-7592_98-7575del | ||
| XM_011510661.1:c.214_231del | XP_011508963.1:p.Leu72_Arg77del | |
| XM_011510662.1:c.214_231del | XP_011508964.1:p.Leu72_Arg77del | |
| XM_011510663.1:c.85_102del | XP_011508965.1:p.Leu29_Arg34del | |
| NM_020989.4:c.214_231del MANE Select | NP_066269.1:p.Leu72_Arg77del |