Linked Data
ClinVar Variation Id:
2944846
ClinVar RCV Id:
RCV003808548
dbSNP Id:
rs1669920121
MyVariant Identifiers:
chr2:g.26427038C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26204169C>A , CM000664.2:g.26204169C>A | GRCh38 |
| NC_000002.11:g.26427038C>A , CM000664.1:g.26427038C>A | GRCh37 |
| NC_000002.10:g.26280542C>A | NCBI36 |
| NG_007121.1:g.45452G>T | |
| NG_007121.2:g.45453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380649.8:c.1113G>T MANE Select | ENSP00000370023.3:p.Leu371= | |
| ENST00000492433.2:c.1113G>T | ENSP00000438039.2:p.Leu371= | |
| ENST00000643057.1:c.*1004G>T | ENSP00000493761.1:n.*1004G>T | |
| ENST00000643063.1:c.*159G>T | ENSP00000495353.1:n.*159G>T | |
| ENST00000643233.1:c.*1004G>T | ENSP00000493880.1:n.*1004G>T | |
| ENST00000644428.1:c.1113G>T | ENSP00000495560.1:p.Leu371= | |
| ENST00000645274.1:c.1008G>T | ENSP00000493996.1:p.Leu336= | |
| ENST00000646031.1:c.472G>T | ||
| ENST00000646483.1:c.979G>T | ENSP00000496185.1:n.979G>T | |
| ENST00000380649.7:c.1113G>T | ENSP00000370023.3:p.Leu371= | |
| NM_000182.4:c.1113G>T | NP_000173.2:p.Leu371= | |
| NM_000182.5:c.1113G>T MANE Select | NP_000173.2:p.Leu371= |