Linked Data
ClinVar Variation Id:
2831886
ClinVar RCV Id:
RCV003686833
MyVariant Identifiers:
chr2:g.26705425G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26482557G>C , CM000664.2:g.26482557G>C | GRCh38 |
| NC_000002.11:g.26705425G>C , CM000664.1:g.26705425G>C | GRCh37 |
| NC_000002.10:g.26558929G>C | NCBI36 |
| NG_009937.1:g.81142C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272371.7:c.1428C>G MANE Select | ENSP00000272371.2:p.Pro476= | |
| ENST00000272371.6:c.1428C>G | ENSP00000272371.2:p.Pro476= | |
| ENST00000403946.7:c.1428C>G | ENSP00000385255.3:p.Pro476= | |
| NM_001287489.1:c.1428C>G | NP_001274418.1:p.Pro476= | |
| NM_194248.2:c.1428C>G | NP_919224.1:p.Pro476= | |
| XM_005264644.2:c.1473C>G | XP_005264701.1:p.Pro491= | |
| XM_011533185.1:c.1473C>G | XP_011531487.1:p.Pro491= | |
| XM_017005338.1:c.1428C>G | XP_016860827.1:p.Pro476= | |
| NM_001287489.2:c.1428C>G | NP_001274418.1:p.Pro476= | |
| NM_194248.3:c.1428C>G MANE Select | NP_919224.1:p.Pro476= |