Linked Data
ClinVar Variation Id:
216112
dbSNP Id:
rs863224514
MyVariant Identifiers:
chr2:g.32312610del (hg19)
chr2:g.32312609del (hg19)
chr2:g.32087541del (hg38)
chr2:g.32087540del (hg38)
PubMed:
PMID:27334366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32087541del , CM000664.2:g.32087541del | GRCh38 |
| NC_000002.11:g.32312610del , CM000664.1:g.32312610del | GRCh37 |
| NC_000002.10:g.32166114del | NCBI36 |
| NG_008730.1:g.28931del , LRG_714:g.28931del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000704289.1:c.*125del | ENSP00000515816.1:n.*125del | |
| ENST00000315285.9:c.465del MANE Select | ENSP00000320885.3:p.Glu155AspfsTer6 | |
| ENST00000621856.2:c.462del | ENSP00000482496.2:p.Glu154AspfsTer6 | |
| ENST00000642281.1:c.349del | ||
| ENST00000642455.1:c.462del | ENSP00000493827.1:p.Glu154AspfsTer6 | |
| ENST00000642751.1:c.335del | ||
| ENST00000642999.1:c.207del | ENSP00000496589.1:p.Glu69AspfsTer6 | |
| ENST00000643334.1:c.50del | ||
| ENST00000644408.1:c.341del | ||
| ENST00000644954.1:c.207del | ENSP00000494312.1:p.Glu69AspfsTer6 | |
| ENST00000645400.1:c.421del | ENSP00000496306.1:n.421del | |
| ENST00000645671.1:c.37-11255del | ||
| ENST00000646082.1:c.299del | ||
| ENST00000646571.1:c.465del | ENSP00000495015.1:p.Glu155AspfsTer6 | |
| ENST00000647007.1:n.162del | ||
| ENST00000647133.1:c.40del | ||
| ENST00000315285.7:c.465del | ENSP00000320885.3:p.Glu155AspfsTer6 | |
| ENST00000345662.5:c.465del | ENSP00000340817.1:p.Glu155AspfsTer6 | |
| ENST00000615843.4:c.465del | ENSP00000480893.1:p.Glu155AspfsTer6 | |
| ENST00000621856.1:c.207del | ENSP00000482496.1:p.Glu69AspfsTer6 | |
| NM_014946.3:c.465del , LRG_714t1:c.465del | NP_055761.2:p.Glu155AspfsTer6 | |
| NM_199436.1:c.465del | NP_955468.1:p.Glu155AspfsTer6 | |
| XM_005264516.3:c.462del | XP_005264573.1:p.Glu154AspfsTer6 | |
| XM_011533067.1:c.465del | XP_011531369.1:p.Glu155AspfsTer6 | |
| NM_001363823.1:c.462del | NP_001350752.1:p.Glu154AspfsTer6 | |
| NM_001363875.1:c.462del | NP_001350804.1:p.Glu154AspfsTer6 | |
| XM_005264516.5:c.462del | XP_005264573.1:p.Glu154AspfsTer6 | |
| XM_011533067.2:c.465del | XP_011531369.1:p.Glu155AspfsTer6 | |
| XM_017004778.2:c.465del | XP_016860267.1:p.Glu155AspfsTer6 | |
| NM_001363823.2:c.462del | NP_001350752.1:p.Glu154AspfsTer6 | |
| NM_001363875.2:c.462del | NP_001350804.1:p.Glu154AspfsTer6 | |
| NM_001377959.1:c.465del | NP_001364888.1:p.Glu155AspfsTer6 | |
| NM_014946.4:c.465del MANE Select | NP_055761.2:p.Glu155AspfsTer6 | |
| NM_199436.2:c.465del | NP_955468.1:p.Glu155AspfsTer6 |