Linked Data
dbSNP Id:
rs1013967223
MyVariant Identifiers:
chr2:g.192914375_192914376insGGTAGTGAGC (hg19)
chr2:g.192049649_192049650insGGTAGTGAGC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.192049649_192049650insGGTAGTGAGC , CM000664.2:g.192049649_192049650insGGTAGTGAGC | GRCh38 |
| NC_000002.11:g.192914375_192914376insGGTAGTGAGC , CM000664.1:g.192914375_192914376insGGTAGTGAGC | GRCh37 |
| NC_000002.10:g.192622620_192622621insGGTAGTGAGC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272771.10:c.536+8029_536+8030insGCTCACTACC MANE Select | ENSP00000272771.5:n.536+8029_536+8030insG... | |
| ENST00000272771.9:c.536+8029_536+8030insGCTCACTACC | ENSP00000272771.5:n.536+8029_536+8030insG... | |
| ENST00000392314.5:c.536+8029_536+8030insGCTCACTACC | ENSP00000376128.1:n.536+8029_536+8030insG... | |
| NM_001305134.1:c.536+8029_536+8030insGCTCACTACC | NP_001292063.1:n.536+8029_536+8030insGCTC... | |
| NM_016192.2:c.536+8029_536+8030insGCTCACTACC | NP_057276.2:n.536+8029_536+8030insGCTCACT... | |
| NM_016192.3:c.536+8029_536+8030insGCTCACTACC | NP_057276.2:n.536+8029_536+8030insGCTCACT... | |
| XM_005246437.2:c.536+8029_536+8030insGCTCACTACC | XP_005246494.1:n.536+8029_536+8030insGCTC... | |
| XM_011510890.1:c.509+8029_509+8030insGCTCACTACC | XP_011509192.1:n.509+8029_509+8030insGCTC... | |
| XR_923721.1:n.171+801_171+802insGGTAGTGAGC | ||
| XR_923722.1:n.171+801_171+802insGGTAGTGAGC | ||
| XM_011510890.3:c.509+8029_509+8030insGCTCACTACC | XP_011509192.1:n.509+8029_509+8030insGCTC... | |
| XM_017003739.2:c.509+8029_509+8030insGCTCACTACC | XP_016859228.1:n.509+8029_509+8030insGCTC... | |
| XM_017003740.2:c.536+8029_536+8030insGCTCACTACC | XP_016859229.1:n.536+8029_536+8030insGCTC... | |
| XR_001739830.1:n.171+801_171+802insGGTAGTGAGC | ||
| NM_016192.4:c.536+8029_536+8030insGCTCACTACC MANE Select | NP_057276.2:n.536+8029_536+8030insGCTCACT... | |
| NM_001305134.2:c.536+8029_536+8030insGCTCACTACC | NP_001292063.1:n.536+8029_536+8030insGCTC... |