Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94395079C>T , CM000669.2:g.94395079C>T | GRCh38 |
| NC_000007.13:g.94024391C>T , CM000669.1:g.94024391C>T | GRCh37 |
| NC_000007.12:g.93862327C>T | NCBI36 |
| NG_007405.1:g.5519C>T , LRG_2:g.5519C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.48C>T (COL1A2) MANE Select | NP_000080.2:p.Thr16= |
| ENST00000297268.11:c.48C>T (COL1A2) MANE Select | ENSP00000297268.6:p.Thr16= |
| NM_000089.3:c.48C>T , LRG_2t1:c.48C>T (COL1A2) | NP_000080.2:p.Thr16= |
| ENST00000297268.10:c.48C>T (COL1A2) | ENSP00000297268.6:p.Thr16= |
| ENST00000620463.1:c.48C>T (COL1A2) | ENSP00000477719.1:p.Thr16= |
| XR_927753.1:n.2196+461G>A (COL1A2-AS1) | |
| XR_927754.1:n.1282+461G>A (COL1A2-AS1) | |
| XR_927755.1:n.2196+461G>A (COL1A2-AS1) |