Linked Data
ClinVar Variation Id:
2898040
ClinVar RCV Id:
RCV003634006
dbSNP Id:
rs745578822
MyVariant Identifiers:
chr2:g.96919564G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96253826G>C , CM000664.2:g.96253826G>C | GRCh38 |
| NC_000002.11:g.96919564G>C , CM000664.1:g.96919564G>C | GRCh37 |
| NC_000002.10:g.96283291G>C | NCBI36 |
| NG_027695.1:g.17188C>G , LRG_528:g.17188C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.699C>G MANE Select | ENSP00000258439.3:p.Pro233= | |
| ENST00000258439.7:c.699C>G | ENSP00000258439.2:p.Pro233= | |
| ENST00000432959.1:c.699C>G | ENSP00000416660.1:p.Pro233= | |
| ENST00000435268.1:c.447C>G | ENSP00000411810.1:p.Pro149= | |
| NM_001193304.2:c.699C>G | NP_001180233.1:p.Pro233= | |
| NM_017849.3:c.699C>G , LRG_528t1:c.699C>G | NP_060319.1:p.Pro233= | |
| XM_017004450.1:c.-220C>G | XP_016859939.1:n.-220C>G | |
| XM_017004452.1:c.447C>G | XP_016859941.1:p.Pro149= | |
| NM_001193304.3:c.699C>G | NP_001180233.1:p.Pro233= | |
| NM_017849.4:c.699C>G MANE Select | NP_060319.1:p.Pro233= |