Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94395100A>G , CM000669.2:g.94395100A>G | GRCh38 |
| NC_000007.13:g.94024412A>G , CM000669.1:g.94024412A>G | GRCh37 |
| NC_000007.12:g.93862348A>G | NCBI36 |
| NG_007405.1:g.5540A>G , LRG_2:g.5540A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000089.4:c.69A>G (COL1A2) MANE Select | NP_000080.2:p.Gln23= |
| ENST00000297268.11:c.69A>G (COL1A2) MANE Select | ENSP00000297268.6:p.Gln23= |
| NM_000089.3:c.69A>G , LRG_2t1:c.69A>G (COL1A2) | NP_000080.2:p.Gln23= |
| ENST00000297268.10:c.69A>G (COL1A2) | ENSP00000297268.6:p.Gln23= |
| ENST00000620463.1:c.69A>G (COL1A2) | ENSP00000477719.1:p.Gln23= |
| XR_927753.1:n.2196+440T>C (COL1A2-AS1) | |
| XR_927754.1:n.1282+440T>C (COL1A2-AS1) | |
| XR_927755.1:n.2196+440T>C (COL1A2-AS1) |