ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001726 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001665 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79079376A>G , CM000667.2:g.79079376A>G | GRCh38 |
| NC_000005.9:g.78375199A>G , CM000667.1:g.78375199A>G | GRCh37 |
| NC_000005.8:g.78410955A>G | NCBI36 |
| NG_029157.1:g.14653A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255192.8:c.174A>G (BHMT2) MANE Select | ENSP00000255192.3:p.Gln58= | |
| ENST00000255192.7:c.174A>G (BHMT2) | ENSP00000255192.3:p.Gln58= | |
| ENST00000518666.5:c.-7A>G (BHMT2) | ENSP00000428640.1:n.-7A>G | |
| ENST00000518758.1:n.189A>G (BHMT2) | ||
| ENST00000519743.1:c.112A>G (BHMT2) | ENSP00000430155.1:p.Thr38Ala | |
| ENST00000520388.5:n.607-23468T>C (DMGDH) | ||
| ENST00000521567.1:c.174A>G (BHMT2) | ENSP00000430278.1:p.Gln58= | |
| NM_001178005.1:c.174A>G (BHMT2) | NP_001171476.1:p.Gln58= | |
| NM_017614.4:c.174A>G (BHMT2) | NP_060084.2:p.Gln58= | |
| NM_017614.5:c.174A>G (BHMT2) MANE Select | NP_060084.2:p.Gln58= | |
| NM_001178005.2:c.174A>G (BHMT2) | NP_001171476.1:p.Gln58= |