Linked Data
ClinVar Variation Id:
989111
ClinVar RCV Id:
RCV001391509
dbSNP Id:
rs1553317048
gnomAD v4:
2-32128476-A-G
MyVariant Identifiers:
chr2:g.32353545A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32128476A>G , CM000664.2:g.32128476A>G | GRCh38 |
| NC_000002.11:g.32353545A>G , CM000664.1:g.32353545A>G | GRCh37 |
| NC_000002.10:g.32207049A>G | NCBI36 |
| NG_008730.1:g.69866A>G , LRG_714:g.69866A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*902A>G | ENSP00000515816.1:n.*902A>G | |
| ENST00000315285.9:c.1242A>G MANE Select | ENSP00000320885.3:p.Lys414= | |
| ENST00000621856.2:c.1239A>G | ENSP00000482496.2:p.Lys413= | |
| ENST00000642281.1:c.983-8087A>G | ||
| ENST00000642455.1:c.1143A>G | ENSP00000493827.1:p.Lys381= | |
| ENST00000642751.1:c.1016A>G | ||
| ENST00000642999.1:c.984A>G | ENSP00000496589.1:p.Lys328= | |
| ENST00000643327.1:c.401A>G | ||
| ENST00000643334.1:c.822A>G | ||
| ENST00000644408.1:c.1118A>G | ||
| ENST00000644954.1:c.888A>G | ENSP00000494312.1:p.Lys296= | |
| ENST00000645159.1:n.1979A>G | ||
| ENST00000645550.1:n.455A>G | ||
| ENST00000645671.1:c.692A>G | ||
| ENST00000645730.1:c.589A>G | ||
| ENST00000646082.1:c.888A>G | ||
| ENST00000646571.1:c.1146A>G | ENSP00000495015.1:p.Lys382= | |
| ENST00000647007.1:n.934A>G | ||
| ENST00000647133.1:c.742A>G | ||
| ENST00000315285.7:c.1242A>G | ENSP00000320885.3:p.Lys414= | |
| ENST00000345662.5:c.1146A>G | ENSP00000340817.1:p.Lys382= | |
| ENST00000615843.4:c.1242A>G | ENSP00000480893.1:p.Lys414= | |
| ENST00000621856.1:c.984A>G | ENSP00000482496.1:p.Lys328= | |
| NM_014946.3:c.1242A>G , LRG_714t1:c.1242A>G | NP_055761.2:p.Lys414= | |
| NM_199436.1:c.1146A>G | NP_955468.1:p.Lys382= | |
| XM_005264516.3:c.1239A>G | XP_005264573.1:p.Lys413= | |
| XM_011533067.1:c.1242A>G | XP_011531369.1:p.Lys414= | |
| NM_001363823.1:c.1239A>G | NP_001350752.1:p.Lys413= | |
| NM_001363875.1:c.1143A>G | NP_001350804.1:p.Lys381= | |
| XM_005264516.5:c.1239A>G | XP_005264573.1:p.Lys413= | |
| XM_011533067.2:c.1242A>G | XP_011531369.1:p.Lys414= | |
| XM_017004778.2:c.1146A>G | XP_016860267.1:p.Lys382= | |
| NM_001363823.2:c.1239A>G | NP_001350752.1:p.Lys413= | |
| NM_001363875.2:c.1143A>G | NP_001350804.1:p.Lys381= | |
| NM_001377959.1:c.1146A>G | NP_001364888.1:p.Lys382= | |
| NM_014946.4:c.1242A>G MANE Select | NP_055761.2:p.Lys414= | |
| NM_199436.2:c.1146A>G | NP_955468.1:p.Lys382= |