Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94395083T>C , CM000669.2:g.94395083T>C | GRCh38 |
| NC_000007.13:g.94024395T>C , CM000669.1:g.94024395T>C | GRCh37 |
| NC_000007.12:g.93862331T>C | NCBI36 |
| NG_007405.1:g.5523T>C , LRG_2:g.5523T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.52T>C (COL1A2) MANE Select | NP_000080.2:p.Cys18Arg |
| ENST00000297268.11:c.52T>C (COL1A2) MANE Select | ENSP00000297268.6:p.Cys18Arg |
| NM_000089.3:c.52T>C , LRG_2t1:c.52T>C (COL1A2) | NP_000080.2:p.Cys18Arg |
| ENST00000297268.10:c.52T>C (COL1A2) | ENSP00000297268.6:p.Cys18Arg |
| ENST00000620463.1:c.52T>C (COL1A2) | ENSP00000477719.1:p.Cys18Arg |
| XR_927753.1:n.2196+457A>G (COL1A2-AS1) | |
| XR_927754.1:n.1282+457A>G (COL1A2-AS1) | |
| XR_927755.1:n.2196+457A>G (COL1A2-AS1) |