Linked Data
dbSNP Id:
rs779028375
ExAC:
5:140027150 T / C
gnomAD v2:
5-140027150-T-C
gnomAD v4:
5-140647565-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140647565T>C , CM000667.2:g.140647565T>C | GRCh38 |
| NC_000005.9:g.140027150T>C , CM000667.1:g.140027150T>C | GRCh37 |
| NC_000005.8:g.140007334T>C | NCBI36 |
| NG_021417.1:g.5221A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252102.9:c.19A>G (NDUFA2) MANE Select | ENSP00000252102.5:p.Ser7Gly | |
| ENST00000252102.8:c.19A>G (NDUFA2) | ENSP00000252102.4:p.Ser7Gly | |
| ENST00000502960.1:n.207A>G (NDUFA2) | ||
| ENST00000512088.1:c.19A>G (NDUFA2) | ENSP00000427220.1:p.Ser7Gly | |
| ENST00000513256.5:c.4+256T>C (IK) | ENSP00000425564.1:n.4+256T>C | |
| NM_001185012.1:c.19A>G (NDUFA2) | NP_001171941.1:p.Ser7Gly | |
| NM_002488.4:c.19A>G (NDUFA2) | NP_002479.1:p.Ser7Gly | |
| NR_033697.1:n.221A>G (NDUFA2) | ||
| NM_002488.5:c.19A>G (NDUFA2) MANE Select | NP_002479.1:p.Ser7Gly | |
| NM_001185012.2:c.19A>G (NDUFA2) | NP_001171941.1:p.Ser7Gly | |
| NR_033697.2:n.66A>G (NDUFA2) |