Linked Data
ClinVar Variation Id:
38353
dbSNP Id:
rs267607264
ExAC:
2:27535552 CCAA / C
gnomAD v2:
2-27535552-CCAA-C
gnomAD v3:
2-27312685-CCAA-C
gnomAD v4:
2-27312685-CCAA-C
MyVariant Identifiers:
chr2:g.27535553_27535555del (hg19)
chr2:g.27312687_27312689del (hg38)
chr2:g.27312686_27312688del (hg38)
PubMed:
PMID:22593919
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312691_27312693del , CM000664.2:g.27312691_27312693del | GRCh38 |
| NC_000002.11:g.27535558_27535560del , CM000664.1:g.27535558_27535560del | GRCh37 |
| NC_000002.10:g.27389062_27389064del | NCBI36 |
| NG_008075.1:g.14877_14879del | |
| NG_033055.1:g.576_578del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380044.6:c.271_273del MANE Select | ENSP00000369383.1:p.Leu91del | |
| ENST00000233545.6:c.271_273del | ENSP00000233545.2:p.Leu91del | |
| ENST00000357186.10:c.103_105del | ENSP00000349713.6:p.Leu35del | |
| ENST00000380044.5:c.271_273del | ENSP00000369383.1:p.Leu91del | |
| ENST00000402310.5:c.271_273del | ENSP00000383955.1:p.Leu91del | |
| ENST00000402722.5:c.236_238del | ENSP00000386000.1:p.Val79del | |
| ENST00000403262.6:c.271_273del | ENSP00000385671.1:p.Leu91del | |
| ENST00000405076.5:c.186+306_186+308del | ENSP00000385175.1:n.186+306_186+308del | |
| ENST00000405983.5:c.316_318del | ENSP00000384586.1:p.Leu106del | |
| ENST00000415514.5:c.*72_*74del | ENSP00000388043.1:n.*72_*74del | |
| ENST00000426513.6:c.236_238del | ENSP00000403824.2:p.Val79del | |
| ENST00000428910.5:c.193_195del | ENSP00000405235.1:p.Leu65del | |
| ENST00000430991.5:c.201_203del | ||
| ENST00000475085.1:n.299_301del | ||
| ENST00000616446.1:n.248_250del | ||
| ENST00000616707.1:n.700_702del | ||
| ENST00000617583.4:n.297_299del | ||
| ENST00000621183.4:n.327_329del | ||
| ENST00000621470.4:n.287_289del | ||
| ENST00000622003.4:n.444_446del | ||
| NM_002437.4:c.271_273del | NP_002428.1:p.Leu91del | |
| XM_005264326.2:c.271_273del | XP_005264383.1:p.Leu91del | |
| XM_005264327.2:c.112_114del | XP_005264384.1:p.Leu38del | |
| XM_006712021.2:c.223_225del | XP_006712084.1:p.Leu75del | |
| XM_005264326.4:c.271_273del | XP_005264383.1:p.Leu91del | |
| XM_006712021.3:c.223_225del | XP_006712084.1:p.Leu75del | |
| XM_017004150.1:c.253_255del | XP_016859639.1:p.Leu85del | |
| XM_017004151.1:c.223_225del | XP_016859640.1:p.Leu75del | |
| XM_017004152.1:c.112_114del | XP_016859641.1:p.Leu38del | |
| XM_024452913.1:c.223_225del | XP_024308681.1:p.Leu75del | |
| NM_002437.5:c.271_273del MANE Select | NP_002428.1:p.Leu91del |