Linked Data
ClinVar Variation Id:
1787130
dbSNP Id:
rs370636719
MyVariant Identifiers:
chr2:g.47703672G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47476533G>C , CM000664.2:g.47476533G>C | GRCh38 |
| NC_000002.11:g.47703672G>C , CM000664.1:g.47703672G>C | GRCh37 |
| NC_000002.10:g.47557176G>C | NCBI36 |
| NG_007110.2:g.78410G>C , LRG_218:g.78410G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644900.2:c.2172G>C | ENSP00000495641.2:p.Thr724= | |
| ENST00000233146.7:c.2172G>C MANE Select | ENSP00000233146.2:p.Thr724= | |
| ENST00000543555.6:c.1974G>C | ENSP00000442697.1:p.Thr658= | |
| ENST00000644092.1:c.*472G>C | ENSP00000496351.1:n.*472G>C | |
| ENST00000644900.1:c.25G>C | ||
| ENST00000645339.1:c.2172G>C | ENSP00000496441.1:p.Thr724= | |
| ENST00000645506.1:c.2172G>C | ENSP00000495455.1:p.Thr724= | |
| ENST00000646415.1:c.2172G>C | ENSP00000495543.1:p.Thr724= | |
| ENST00000233146.6:c.2172G>C | ENSP00000233146.2:p.Thr724= | |
| ENST00000406134.5:c.2172G>C | ENSP00000384199.1:p.Thr724= | |
| ENST00000543555.5:c.1974G>C | ENSP00000442697.1:p.Thr658= | |
| ENST00000610696.4:c.*568G>C | ENSP00000483159.1:n.*568G>C | |
| ENST00000613514.4:c.*712G>C | ENSP00000484137.1:n.*712G>C | |
| ENST00000617333.3:c.*938G>C | ENSP00000482468.1:n.*938G>C | |
| ENST00000617938.4:c.*1144G>C | ENSP00000481158.1:n.*1144G>C | |
| ENST00000621359.2:c.2172G>C | ENSP00000481416.1:p.Thr724= | |
| NM_000251.2:c.2172G>C , LRG_218t1:c.2172G>C | NP_000242.1:p.Thr724= | |
| NM_001258281.1:c.1974G>C | NP_001245210.1:p.Thr658= | |
| XM_005264332.2:c.2172G>C | XP_005264389.2:p.Thr724= | |
| XM_011532867.1:c.2172G>C | XP_011531169.1:p.Thr724= | |
| XR_939685.1:n.2244G>C | ||
| XM_005264332.4:c.2172G>C | XP_005264389.2:p.Thr724= | |
| XM_011532867.2:c.2172G>C | XP_011531169.1:p.Thr724= | |
| XR_001738747.2:n.2234G>C | ||
| XR_939685.2:n.2234G>C | ||
| NM_000251.3:c.2172G>C MANE Select | NP_000242.1:p.Thr724= |