MyVariant.info:
GRCh38
chr5:g.79085866A>T
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.79085866A>T , CM000667.2:g.79085866A>T | GRCh38 |
| NC_000005.9:g.78381689A>T , CM000667.1:g.78381689A>T | GRCh37 |
| NC_000005.8:g.78417445A>T | NCBI36 |
| NG_029157.1:g.21143A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255192.8:c.1010+2010A>T (BHMT2) MANE Select | ENSP00000255192.3:n.1010+2010A>T | |
| ENST00000255192.7:c.1010+2010A>T (BHMT2) | ENSP00000255192.3:n.1010+2010A>T | |
| ENST00000520388.5:n.606+18298T>A (DMGDH) | ||
| ENST00000521567.1:c.818+2010A>T (BHMT2) | ENSP00000430278.1:n.818+2010A>T | |
| NM_001178005.1:c.818+2010A>T (BHMT2) | NP_001171476.1:n.818+2010A>T | |
| NM_017614.4:c.1010+2010A>T (BHMT2) | NP_060084.2:n.1010+2010A>T | |
| NM_017614.5:c.1010+2010A>T (BHMT2) MANE Select | NP_060084.2:n.1010+2010A>T | |
| NM_001178005.2:c.818+2010A>T (BHMT2) | NP_001171476.1:n.818+2010A>T |