Linked Data
ClinVar Variation Id:
758636
ClinVar RCV Id:
RCV000936378
dbSNP Id:
rs1573139443
gnomAD v4:
2-32126956-A-G
MyVariant Identifiers:
chr2:g.32352025A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32126956A>G , CM000664.2:g.32126956A>G | GRCh38 |
| NC_000002.11:g.32352025A>G , CM000664.1:g.32352025A>G | GRCh37 |
| NC_000002.10:g.32205529A>G | NCBI36 |
| NG_008730.1:g.68346A>G , LRG_714:g.68346A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*767A>G | ENSP00000515816.1:n.*767A>G | |
| ENST00000315285.9:c.1107A>G MANE Select | ENSP00000320885.3:p.Thr369= | |
| ENST00000621856.2:c.1104A>G | ENSP00000482496.2:p.Thr368= | |
| ENST00000642281.1:c.983-9607A>G | ||
| ENST00000642455.1:c.1008A>G | ENSP00000493827.1:p.Thr336= | |
| ENST00000642751.1:c.881A>G | ||
| ENST00000642999.1:c.849A>G | ENSP00000496589.1:p.Thr283= | |
| ENST00000643327.1:c.266A>G | ||
| ENST00000643334.1:c.687A>G | ||
| ENST00000644408.1:c.983A>G | ||
| ENST00000644954.1:c.753A>G | ENSP00000494312.1:p.Thr251= | |
| ENST00000645159.1:n.459A>G | ||
| ENST00000645550.1:n.320A>G | ||
| ENST00000645671.1:c.557A>G | ||
| ENST00000645730.1:c.454A>G | ||
| ENST00000646082.1:c.753A>G | ||
| ENST00000646571.1:c.1011A>G | ENSP00000495015.1:p.Thr337= | |
| ENST00000647007.1:n.799A>G | ||
| ENST00000647133.1:c.674-1452A>G | ||
| ENST00000315285.7:c.1107A>G | ENSP00000320885.3:p.Thr369= | |
| ENST00000345662.5:c.1011A>G | ENSP00000340817.1:p.Thr337= | |
| ENST00000615843.4:c.1107A>G | ENSP00000480893.1:p.Thr369= | |
| ENST00000621856.1:c.849A>G | ENSP00000482496.1:p.Thr283= | |
| NM_014946.3:c.1107A>G , LRG_714t1:c.1107A>G | NP_055761.2:p.Thr369= | |
| NM_199436.1:c.1011A>G | NP_955468.1:p.Thr337= | |
| XM_005264516.3:c.1104A>G | XP_005264573.1:p.Thr368= | |
| XM_011533067.1:c.1107A>G | XP_011531369.1:p.Thr369= | |
| NM_001363823.1:c.1104A>G | NP_001350752.1:p.Thr368= | |
| NM_001363875.1:c.1008A>G | NP_001350804.1:p.Thr336= | |
| XM_005264516.5:c.1104A>G | XP_005264573.1:p.Thr368= | |
| XM_011533067.2:c.1107A>G | XP_011531369.1:p.Thr369= | |
| XM_017004778.2:c.1011A>G | XP_016860267.1:p.Thr337= | |
| NM_001363823.2:c.1104A>G | NP_001350752.1:p.Thr368= | |
| NM_001363875.2:c.1008A>G | NP_001350804.1:p.Thr336= | |
| NM_001377959.1:c.1011A>G | NP_001364888.1:p.Thr337= | |
| NM_014946.4:c.1107A>G MANE Select | NP_055761.2:p.Thr369= | |
| NM_199436.2:c.1011A>G | NP_955468.1:p.Thr337= |