Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94394945C>T , CM000669.2:g.94394945C>T | GRCh38 |
| NC_000007.13:g.94024257C>T , CM000669.1:g.94024257C>T | GRCh37 |
| NC_000007.12:g.93862193C>T | NCBI36 |
| NG_007405.1:g.5385C>T , LRG_2:g.5385C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.-87C>T (COL1A2) MANE Select | ENSP00000297268.6:n.-87C>T | |
| ENST00000297268.10:c.-87C>T (COL1A2) | ENSP00000297268.6:n.-87C>T | |
| ENST00000620463.1:c.-87C>T (COL1A2) | ENSP00000477719.1:n.-87C>T | |
| NM_000089.3:c.-87C>T , LRG_2t1:c.-87C>T (COL1A2) | NP_000080.2:n.-87C>T | |
| XR_927753.1:n.2196+595G>A (COL1A2-AS1) | ||
| XR_927754.1:n.1282+595G>A (COL1A2-AS1) | ||
| XR_927755.1:n.2196+595G>A (COL1A2-AS1) | ||
| NM_000089.4:c.-87C>T (COL1A2) MANE Select | NP_000080.2:n.-87C>T |