Linked Data
ClinVar Variation Id:
214712
dbSNP Id:
rs863224084
gnomAD v4:
5-140645661-TC-T
PubMed:
PMID:28857146
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140645662del , CM000667.2:g.140645662del | GRCh38 |
| NC_000005.9:g.140025247del , CM000667.1:g.140025247del | GRCh37 |
| NC_000005.8:g.140005431del | NCBI36 |
| NG_021417.1:g.7124del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252102.9:c.225del (NDUFA2) MANE Select | ENSP00000252102.5:p.Asn76MetfsTer4 | |
| ENST00000252102.8:c.225del (NDUFA2) | ENSP00000252102.4:p.Asn76MetfsTer4 | |
| ENST00000502960.1:n.533del (NDUFA2) | ||
| ENST00000510680.1:n.59+1594del (NDUFA2) | ||
| ENST00000512088.1:c.*41del (NDUFA2) | ENSP00000427220.1:n.*41del | |
| NM_001185012.1:c.*41del (NDUFA2) | NP_001171941.1:n.*41del | |
| NM_002488.4:c.225del (NDUFA2) | NP_002479.1:p.Asn76MetfsTer4 | |
| NR_033697.1:n.547del (NDUFA2) | ||
| XM_011537663.1:c.1219-1153del (TMCO6) | XP_011535965.1:n.1219-1153del | |
| XM_011537663.2:c.1219-1153del (TMCO6) | XP_011535965.1:n.1219-1153del | |
| NM_002488.5:c.225del (NDUFA2) MANE Select | NP_002479.1:p.Asn76MetfsTer4 | |
| NM_001185012.2:c.*41del (NDUFA2) | NP_001171941.1:n.*41del | |
| NR_033697.2:n.392del (NDUFA2) |