Linked Data
ClinVar Variation Id:
552354
ClinVar RCV Id:
RCV000667595
dbSNP Id:
rs1553418513
MyVariant Identifiers:
chr2:g.73572721del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572721del , CM000664.2:g.73572721del | GRCh38 |
| NC_000002.11:g.73799848del , CM000664.1:g.73799848del | GRCh37 |
| NC_000002.10:g.73653356del | NCBI36 |
| NG_011690.1:g.191969del , LRG_741:g.191969del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10463del | ENSP00000507671.1:p.Pro3488LeufsTer? | |
| ENST00000682801.1:c.10463del | ENSP00000507862.1:p.Pro3488LeufsTer? | |
| ENST00000682859.1:c.10463del | ENSP00000508222.1:p.Pro3488LeufsTer? | |
| ENST00000683791.1:c.3549del | ||
| ENST00000684460.1:c.7744del | ||
| ENST00000684548.1:c.10463del | ENSP00000507421.1:p.Pro3488LeufsTer? | |
| ENST00000684590.1:c.4910del | ENSP00000507376.1:p.Pro1637LeufsTer? | |
| ENST00000684656.1:c.7789del | ||
| ENST00000613296.6:c.10844del MANE Select | ENSP00000482968.1:p.Pro3615LeufsTer? | |
| ENST00000651057.1:c.998del | ENSP00000498504.1:p.Pro333LeufsTer? | |
| ENST00000651434.1:c.2200del | ||
| ENST00000651750.1:c.232del | ||
| ENST00000652487.1:c.1941del | ||
| ENST00000423048.5:c.4335del | ENSP00000399833.1:n.4335del | |
| ENST00000484298.5:c.10718del | ENSP00000478155.1:p.Pro3573LeufsTer? | |
| ENST00000613296.4:c.10844del | ENSP00000482968.1:p.Pro3615LeufsTer? | |
| ENST00000614410.4:c.10844del | ENSP00000479094.1:p.Pro3615LeufsTer? | |
| ENST00000620466.4:n.4647del | ||
| NM_015120.4:c.10847del , LRG_741t1:c.10847del | NP_055935.4:p.Pro3616LeufsTer? | |
| NM_001378454.1:c.10844del MANE Select | NP_001365383.1:p.Pro3615LeufsTer? |