Linked Data
ClinVar Variation Id:
17892
dbSNP Id:
rs121918387
gnomAD v3:
2-21007667-CT-C
gnomAD v4:
2-21007667-CT-C
MyVariant Identifiers:
chr2:g.21230541del (hg19)
chr2:g.21230540del (hg19)
chr2:g.21007669del (hg38)
chr2:g.21007668del (hg38)
PubMed:
PMID:2022744
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21007669del , CM000664.2:g.21007669del | GRCh38 |
| NC_000002.11:g.21230541del , CM000664.1:g.21230541del | GRCh37 |
| NC_000002.10:g.21084046del | NCBI36 |
| NG_011793.1:g.41406del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233242.5:c.9200del MANE Select | ENSP00000233242.1:p.Lys3067ArgfsTer2 | |
| ENST00000616098.4:c.9200del | ENSP00000477990.1:p.Lys3067ArgfsTer2 | |
| NM_000384.2:c.9200del | NP_000375.2:p.Lys3067ArgfsTer2 | |
| XM_011532809.1:c.5869+3065del | XP_011531111.1:n.5869+3065del | |
| NM_000384.3:c.9200del MANE Select | NP_000375.3:p.Lys3067ArgfsTer2 |