Linked Data
ClinVar Variation Id:
192299
dbSNP Id:
rs876657397
gnomAD v2:
2-228029471-AGGTGCTCCTGCTGCCGCTCCTGCT-A
gnomAD v3:
2-227164755-AGGTGCTCCTGCTGCCGCTCCTGCT-A
gnomAD v4:
2-227164755-AGGTGCTCCTGCTGCCGCTCCTGCT-A
MyVariant Identifiers:
chr2:g.228029482_228029505del (hg19)
chr2:g.228029472_228029495del (hg19)
chr2:g.227164766_227164789del (hg38)
chr2:g.227164756_227164779del (hg38)
PubMed:
PMID:23927549
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227164766_227164789del , CM000664.2:g.227164766_227164789del | GRCh38 |
| NC_000002.11:g.228029482_228029505del , CM000664.1:g.228029482_228029505del | GRCh37 |
| NC_000002.10:g.227737726_227737749del | NCBI36 |
| NG_011591.1:g.5202_5225del , LRG_230:g.5202_5225del | |
| NG_011592.1:g.4781_4804del , LRG_231:g.4781_4804del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396578.8:c.40_63del MANE Select | ENSP00000379823.3:p.Leu14_Leu21del | |
| ENST00000396578.7:c.40_63del | ENSP00000379823.3:p.Leu14_Leu21del | |
| NM_000091.4:c.40_63del , LRG_230t1:c.40_63del | NP_000082.2:p.Leu14_Leu21del | |
| XM_005246276.2:c.40_63del | XP_005246333.1:p.Leu14_Leu21del | |
| XM_005246277.2:c.40_63del | XP_005246334.1:p.Leu14_Leu21del | |
| XM_005246280.2:c.40_63del | XP_005246337.1:p.Leu14_Leu21del | |
| XM_006712245.2:c.40_63del | XP_006712308.1:p.Leu14_Leu21del | |
| XM_011510555.1:c.40_63del | XP_011508857.1:p.Leu14_Leu21del | |
| XR_241280.2:n.178_201del | ||
| XM_005246277.3:c.40_63del | XP_005246334.1:p.Leu14_Leu21del | |
| XM_005246280.3:c.40_63del | XP_005246337.1:p.Leu14_Leu21del | |
| XM_006712245.3:c.40_63del | XP_006712308.1:p.Leu14_Leu21del | |
| XM_017003295.1:c.40_63del | XP_016858784.1:p.Leu14_Leu21del | |
| XR_001738601.1:n.178_201del | ||
| XR_241280.3:n.178_201del | ||
| NM_000091.5:c.40_63del MANE Select | NP_000082.2:p.Leu14_Leu21del |