Linked Data
ClinVar Variation Id:
1203505
ClinVar RCV Id:
RCV001569568
dbSNP Id:
rs1360989040
gnomAD v2:
5-140027141-C-T
gnomAD v3:
5-140647556-C-T
gnomAD v4:
5-140647556-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140647556C>T , CM000667.2:g.140647556C>T | GRCh38 |
| NC_000005.9:g.140027141C>T , CM000667.1:g.140027141C>T | GRCh37 |
| NC_000005.8:g.140007325C>T | NCBI36 |
| NG_021417.1:g.5230G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252102.9:c.28G>A (NDUFA2) MANE Select | ENSP00000252102.5:p.Val10Ile | |
| ENST00000252102.8:c.28G>A (NDUFA2) | ENSP00000252102.4:p.Val10Ile | |
| ENST00000502960.1:n.216G>A (NDUFA2) | ||
| ENST00000512088.1:c.28G>A (NDUFA2) | ENSP00000427220.1:p.Val10Ile | |
| ENST00000513256.5:c.4+247C>T (IK) | ENSP00000425564.1:n.4+247C>T | |
| NM_001185012.1:c.28G>A (NDUFA2) | NP_001171941.1:p.Val10Ile | |
| NM_002488.4:c.28G>A (NDUFA2) | NP_002479.1:p.Val10Ile | |
| NR_033697.1:n.230G>A (NDUFA2) | ||
| NM_002488.5:c.28G>A (NDUFA2) MANE Select | NP_002479.1:p.Val10Ile | |
| NM_001185012.2:c.28G>A (NDUFA2) | NP_001171941.1:p.Val10Ile | |
| NR_033697.2:n.75G>A (NDUFA2) |