Linked Data
ClinVar Variation Id:
135287
dbSNP Id:
rs2454206
ExAC:
4:106196951 A / G
gnomAD v2:
4-106196951-A-G
gnomAD v3:
4-105275794-A-G
gnomAD v4:
4-105275794-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105275794A>G , CM000666.2:g.105275794A>G | GRCh38 |
| NC_000004.11:g.106196951A>G , CM000666.1:g.106196951A>G | GRCh37 |
| NC_000004.10:g.106416400A>G | NCBI36 |
| NG_028191.1:g.134920A>G , LRG_626:g.134920A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380013.9:c.5284A>G (TET2) MANE Select | ENSP00000369351.4:p.Ile1762Val | |
| ENST00000265149.9:c.*1608A>G (TET2) | ENSP00000265149.5:n.*1608A>G | |
| ENST00000380013.8:c.5284A>G (TET2) | ENSP00000369351.4:p.Ile1762Val | |
| ENST00000513237.5:c.5347A>G (TET2) | ENSP00000425443.1:p.Ile1783Val | |
| ENST00000540549.5:c.5284A>G (TET2) | ENSP00000442788.1:p.Ile1762Val | |
| NM_001127208.2:c.5284A>G , LRG_626t1:c.5284A>G (TET2) | NP_001120680.1:p.Ile1762Val | |
| NR_126420.1:n.318+58592T>C (TET2-AS1) | ||
| XM_005263082.1:c.5284A>G (TET2) | XP_005263139.1:p.Ile1762Val | |
| XM_006714242.2:c.4984A>G (TET2) | XP_006714305.1:p.Ile1662Val | |
| XM_011532044.1:c.1795A>G (TET2) | XP_011530346.1:p.Ile599Val | |
| XR_244633.2:n.5186A>G (TET2) | ||
| XR_244634.2:n.5489A>G (TET2) | ||
| XM_005263082.3:c.5284A>G (TET2) | XP_005263139.1:p.Ile1762Val | |
| XM_006714242.3:c.4984A>G (TET2) | XP_006714305.1:p.Ile1662Val | |
| XM_024454102.1:c.5284A>G (TET2) | XP_024309870.1:p.Ile1762Val | |
| XM_024454103.1:c.5284A>G (TET2) | XP_024309871.1:p.Ile1762Val | |
| XR_244633.3:n.5221A>G (TET2) | ||
| NM_001127208.3:c.5284A>G (TET2) MANE Select | NP_001120680.1:p.Ile1762Val |