Linked Data
ClinVar Variation Id:
2942765
ClinVar RCV Id:
RCV003807931
gnomAD v4:
2-26204172-C-G
MyVariant Identifiers:
chr2:g.26427041C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204172C>G , CM000664.2:g.26204172C>G | GRCh38 |
| NC_000002.11:g.26427041C>G , CM000664.1:g.26427041C>G | GRCh37 |
| NC_000002.10:g.26280545C>G | NCBI36 |
| NG_007121.1:g.45449G>C | |
| NG_007121.2:g.45450G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1110G>C MANE Select | ENSP00000370023.3:p.Gly370= | |
| ENST00000492433.2:c.1110G>C | ENSP00000438039.2:p.Gly370= | |
| ENST00000643057.1:c.*1001G>C | ENSP00000493761.1:n.*1001G>C | |
| ENST00000643063.1:c.*156G>C | ENSP00000495353.1:n.*156G>C | |
| ENST00000643233.1:c.*1001G>C | ENSP00000493880.1:n.*1001G>C | |
| ENST00000644428.1:c.1110G>C | ENSP00000495560.1:p.Gly370= | |
| ENST00000645274.1:c.1005G>C | ENSP00000493996.1:p.Gly335= | |
| ENST00000646031.1:c.469G>C | ||
| ENST00000646483.1:c.976G>C | ENSP00000496185.1:n.976G>C | |
| ENST00000380649.7:c.1110G>C | ENSP00000370023.3:p.Gly370= | |
| NM_000182.4:c.1110G>C | NP_000173.2:p.Gly370= | |
| NM_000182.5:c.1110G>C MANE Select | NP_000173.2:p.Gly370= |