Linked Data
ClinVar Variation Id:
1983752
ClinVar RCV Id:
RCV002770428
dbSNP Id:
rs1679266623
MyVariant Identifiers:
chr2:g.32353527T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128458T>G , CM000664.2:g.32128458T>G | GRCh38 |
| NC_000002.11:g.32353527T>G , CM000664.1:g.32353527T>G | GRCh37 |
| NC_000002.10:g.32207031T>G | NCBI36 |
| NG_008730.1:g.69848T>G , LRG_714:g.69848T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*884T>G | ENSP00000515816.1:n.*884T>G | |
| ENST00000315285.9:c.1224T>G MANE Select | ENSP00000320885.3:p.Ala408= | |
| ENST00000621856.2:c.1221T>G | ENSP00000482496.2:p.Ala407= | |
| ENST00000642281.1:c.983-8105T>G | ||
| ENST00000642455.1:c.1125T>G | ENSP00000493827.1:p.Ala375= | |
| ENST00000642751.1:c.998T>G | ||
| ENST00000642999.1:c.966T>G | ENSP00000496589.1:p.Ala322= | |
| ENST00000643327.1:c.383T>G | ||
| ENST00000643334.1:c.804T>G | ||
| ENST00000644408.1:c.1100T>G | ||
| ENST00000644954.1:c.870T>G | ENSP00000494312.1:p.Ala290= | |
| ENST00000645159.1:n.1961T>G | ||
| ENST00000645550.1:n.437T>G | ||
| ENST00000645671.1:c.674T>G | ||
| ENST00000645730.1:c.571T>G | ||
| ENST00000646082.1:c.870T>G | ||
| ENST00000646571.1:c.1128T>G | ENSP00000495015.1:p.Ala376= | |
| ENST00000647007.1:n.916T>G | ||
| ENST00000647133.1:c.724T>G | ||
| ENST00000315285.7:c.1224T>G | ENSP00000320885.3:p.Ala408= | |
| ENST00000345662.5:c.1128T>G | ENSP00000340817.1:p.Ala376= | |
| ENST00000615843.4:c.1224T>G | ENSP00000480893.1:p.Ala408= | |
| ENST00000621856.1:c.966T>G | ENSP00000482496.1:p.Ala322= | |
| NM_014946.3:c.1224T>G , LRG_714t1:c.1224T>G | NP_055761.2:p.Ala408= | |
| NM_199436.1:c.1128T>G | NP_955468.1:p.Ala376= | |
| XM_005264516.3:c.1221T>G | XP_005264573.1:p.Ala407= | |
| XM_011533067.1:c.1224T>G | XP_011531369.1:p.Ala408= | |
| NM_001363823.1:c.1221T>G | NP_001350752.1:p.Ala407= | |
| NM_001363875.1:c.1125T>G | NP_001350804.1:p.Ala375= | |
| XM_005264516.5:c.1221T>G | XP_005264573.1:p.Ala407= | |
| XM_011533067.2:c.1224T>G | XP_011531369.1:p.Ala408= | |
| XM_017004778.2:c.1128T>G | XP_016860267.1:p.Ala376= | |
| NM_001363823.2:c.1221T>G | NP_001350752.1:p.Ala407= | |
| NM_001363875.2:c.1125T>G | NP_001350804.1:p.Ala375= | |
| NM_001377959.1:c.1128T>G | NP_001364888.1:p.Ala376= | |
| NM_014946.4:c.1224T>G MANE Select | NP_055761.2:p.Ala408= | |
| NM_199436.2:c.1128T>G | NP_955468.1:p.Ala376= |