Linked Data
ClinVar Variation Id:
135288
ClinVar RCV Id:
RCV003718118
dbSNP Id:
rs2454206
gnomAD v2:
4-106196951-A-T
gnomAD v3:
4-105275794-A-T
gnomAD v4:
4-105275794-A-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105275794A>T , CM000666.2:g.105275794A>T | GRCh38 |
| NC_000004.11:g.106196951A>T , CM000666.1:g.106196951A>T | GRCh37 |
| NC_000004.10:g.106416400A>T | NCBI36 |
| NG_028191.1:g.134920A>T , LRG_626:g.134920A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380013.9:c.5284A>T (TET2) MANE Select | ENSP00000369351.4:p.Ile1762Leu | |
| ENST00000265149.9:c.*1608A>T (TET2) | ENSP00000265149.5:n.*1608A>T | |
| ENST00000380013.8:c.5284A>T (TET2) | ENSP00000369351.4:p.Ile1762Leu | |
| ENST00000513237.5:c.5347A>T (TET2) | ENSP00000425443.1:p.Ile1783Leu | |
| ENST00000540549.5:c.5284A>T (TET2) | ENSP00000442788.1:p.Ile1762Leu | |
| NM_001127208.2:c.5284A>T , LRG_626t1:c.5284A>T (TET2) | NP_001120680.1:p.Ile1762Leu | |
| NR_126420.1:n.318+58592T>A (TET2-AS1) | ||
| XM_005263082.1:c.5284A>T (TET2) | XP_005263139.1:p.Ile1762Leu | |
| XM_006714242.2:c.4984A>T (TET2) | XP_006714305.1:p.Ile1662Leu | |
| XM_011532044.1:c.1795A>T (TET2) | XP_011530346.1:p.Ile599Leu | |
| XR_244633.2:n.5186A>T (TET2) | ||
| XR_244634.2:n.5489A>T (TET2) | ||
| XM_005263082.3:c.5284A>T (TET2) | XP_005263139.1:p.Ile1762Leu | |
| XM_006714242.3:c.4984A>T (TET2) | XP_006714305.1:p.Ile1662Leu | |
| XM_024454102.1:c.5284A>T (TET2) | XP_024309870.1:p.Ile1762Leu | |
| XM_024454103.1:c.5284A>T (TET2) | XP_024309871.1:p.Ile1762Leu | |
| XR_244633.3:n.5221A>T (TET2) | ||
| NM_001127208.3:c.5284A>T (TET2) MANE Select | NP_001120680.1:p.Ile1762Leu |