Linked Data
ClinVar Variation Id:
215155
dbSNP Id:
rs11334205
ExAC:
2:228560800 GA / G
gnomAD v2:
2-228560800-GA-G
gnomAD v3:
2-227696084-GA-G
gnomAD v4:
2-227696084-GA-G
MyVariant Identifiers:
chr2:g.228560802del (hg19)
chr2:g.228560801del (hg19)
chr2:g.227696086del (hg38)
chr2:g.227696085del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227696092del , CM000664.2:g.227696092del | GRCh38 |
| NC_000002.11:g.228560808del , CM000664.1:g.228560808del | GRCh37 |
| NC_000002.10:g.228269052del | NCBI36 |
| NG_016359.1:g.26945del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258403.8:c.980-4del | ENSP00000258403.3:n.980-4del | |
| ENST00000425817.6:c.*1005-4del | ENSP00000397393.2:n.*1005-4del | |
| ENST00000431622.6:c.*1005-4del | ENSP00000400627.1:n.*1005-4del | |
| ENST00000642268.1:n.1170-4del | ||
| ENST00000644224.2:c.980-4del MANE Select | ENSP00000495385.1:n.980-4del | |
| ENST00000645700.1:c.*91-4del | ENSP00000495372.1:n.*91-4del | |
| ENST00000645923.1:c.665-4del | ENSP00000495010.1:n.665-4del | |
| ENST00000646591.1:c.1016-4del | ENSP00000496701.1:n.1016-4del | |
| ENST00000647113.1:c.151-4del | ENSP00000494966.1:n.151-4del | |
| ENST00000676066.1:n.710-4del | ||
| ENST00000258403.7:c.980-4del | ENSP00000258403.3:n.980-4del | |
| ENST00000409287.5:c.259+3371del | ENSP00000386298.1:n.259+3371del | |
| ENST00000425817.5:c.980-4del | ENSP00000397393.1:n.980-4del | |
| NM_025243.3:c.980-4del | NP_079519.1:n.980-4del | |
| XM_005246874.2:c.968-4del | XP_005246931.1:n.968-4del | |
| XM_006712779.2:c.995-4del | XP_006712842.1:n.995-4del | |
| XM_011511931.1:c.1016-4del | XP_011510233.1:n.1016-4del | |
| XM_011511932.1:c.980-4del | XP_011510234.1:n.980-4del | |
| XM_011511933.1:c.980-4del | XP_011510235.1:n.980-4del | |
| XM_005246874.3:c.968-4del | XP_005246931.1:n.968-4del | |
| XM_011511931.2:c.1016-4del | XP_011510233.1:n.1016-4del | |
| XM_017005030.1:c.1220-4del | XP_016860519.1:n.1220-4del | |
| XM_017005031.1:c.1199-4del | XP_016860520.1:n.1199-4del | |
| XM_017005032.1:c.1184-4del | XP_016860521.1:n.1184-4del | |
| XM_017005033.1:c.1184-4del | XP_016860522.1:n.1184-4del | |
| XM_017005034.2:c.1184-4del | XP_016860523.1:n.1184-4del | |
| NM_025243.4:c.980-4del MANE Select | NP_079519.1:n.980-4del | |
| NM_001371411.1:c.980-4del | NP_001358340.1:n.980-4del | |
| NM_001371412.1:c.980-4del | NP_001358341.1:n.980-4del | |
| NM_001371413.1:c.968-4del | NP_001358342.1:n.968-4del | |
| NM_001371414.1:c.968-4del | NP_001358343.1:n.968-4del |