Linked Data
ClinVar Variation Id:
2814970
ClinVar RCV Id:
RCV003760877
MyVariant Identifiers:
chr2:g.47710007A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47482868A>G , CM000664.2:g.47482868A>G | GRCh38 |
| NC_000002.11:g.47710007A>G , CM000664.1:g.47710007A>G | GRCh37 |
| NC_000002.10:g.47563511A>G | NCBI36 |
| NG_007110.2:g.84745A>G , LRG_218:g.84745A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2634+1997A>G | ENSP00000495641.2:n.2634+1997A>G | |
| ENST00000233146.7:c.2724A>G MANE Select | ENSP00000233146.2:p.Leu908= | |
| ENST00000543555.6:c.2526A>G | ENSP00000442697.1:p.Leu842= | |
| ENST00000644092.1:c.*934+1997A>G | ENSP00000496351.1:n.*934+1997A>G | |
| ENST00000644900.1:c.487+1997A>G | ||
| ENST00000645339.1:c.2634+1997A>G | ENSP00000496441.1:n.2634+1997A>G | |
| ENST00000645506.1:c.2634+1997A>G | ENSP00000495455.1:n.2634+1997A>G | |
| ENST00000646415.1:c.2634+1997A>G | ENSP00000495543.1:n.2634+1997A>G | |
| ENST00000233146.6:c.2724A>G | ENSP00000233146.2:p.Leu908= | |
| ENST00000406134.5:c.2634+1997A>G | ENSP00000384199.1:n.2634+1997A>G | |
| ENST00000461394.5:n.75+1997A>G | ||
| ENST00000543555.5:c.2526A>G | ENSP00000442697.1:p.Leu842= | |
| ENST00000610696.4:c.*1120A>G | ENSP00000483159.1:n.*1120A>G | |
| ENST00000613514.4:c.*1264A>G | ENSP00000484137.1:n.*1264A>G | |
| ENST00000617333.3:c.*1490A>G | ENSP00000482468.1:n.*1490A>G | |
| ENST00000617938.4:c.*1696A>G | ENSP00000481158.1:n.*1696A>G | |
| ENST00000621359.2:c.*290A>G | ENSP00000481416.1:n.*290A>G | |
| NM_000251.2:c.2724A>G , LRG_218t1:c.2724A>G | NP_000242.1:p.Leu908= | |
| NM_001258281.1:c.2526A>G | NP_001245210.1:p.Leu842= | |
| XM_005264332.2:c.2634+1997A>G | XP_005264389.2:n.2634+1997A>G | |
| XM_011532867.1:c.2634+1997A>G | XP_011531169.1:n.2634+1997A>G | |
| XR_939685.1:n.2706+1997A>G | ||
| XM_005264332.4:c.2634+1997A>G | XP_005264389.2:n.2634+1997A>G | |
| XM_011532867.2:c.2634+1997A>G | XP_011531169.1:n.2634+1997A>G | |
| XR_001738747.2:n.2696+1997A>G | ||
| XR_939685.2:n.2696+1997A>G | ||
| NM_000251.3:c.2724A>G MANE Select | NP_000242.1:p.Leu908= |