Linked Data
ClinVar Variation Id:
430399
dbSNP Id:
rs1131691943
gnomAD v4:
4-105269710-A-G
COSMIC:
COSM4605321
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105269710A>G , CM000666.2:g.105269710A>G | GRCh38 |
| NC_000004.11:g.106190867A>G , CM000666.1:g.106190867A>G | GRCh37 |
| NC_000004.10:g.106410316A>G | NCBI36 |
| NG_028191.1:g.128836A>G , LRG_626:g.128836A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380013.9:c.4145A>G (TET2) MANE Select | ENSP00000369351.4:p.His1382Arg | |
| ENST00000265149.9:c.*469A>G (TET2) | ENSP00000265149.5:n.*469A>G | |
| ENST00000380013.8:c.4145A>G (TET2) | ENSP00000369351.4:p.His1382Arg | |
| ENST00000513237.5:c.4208A>G (TET2) | ENSP00000425443.1:p.His1403Arg | |
| ENST00000540549.5:c.4145A>G (TET2) | ENSP00000442788.1:p.His1382Arg | |
| NM_001127208.2:c.4145A>G , LRG_626t1:c.4145A>G (TET2) | NP_001120680.1:p.His1382Arg | |
| NR_126420.1:n.318+64676T>C (TET2-AS1) | ||
| XM_005263082.1:c.4145A>G (TET2) | XP_005263139.1:p.His1382Arg | |
| XM_006714242.2:c.3845A>G (TET2) | XP_006714305.1:p.His1282Arg | |
| XM_011532044.1:c.656A>G (TET2) | XP_011530346.1:p.His219Arg | |
| XR_244633.2:n.4047A>G (TET2) | ||
| XR_244634.2:n.4350A>G (TET2) | ||
| XR_427546.2:n.4232A>G (TET2) | ||
| XM_005263082.3:c.4145A>G (TET2) | XP_005263139.1:p.His1382Arg | |
| XM_006714242.3:c.3845A>G (TET2) | XP_006714305.1:p.His1282Arg | |
| XM_024454102.1:c.4145A>G (TET2) | XP_024309870.1:p.His1382Arg | |
| XM_024454103.1:c.4145A>G (TET2) | XP_024309871.1:p.His1382Arg | |
| XR_244633.3:n.4082A>G (TET2) | ||
| XR_427546.4:n.4267A>G (TET2) | ||
| NM_001127208.3:c.4145A>G (TET2) MANE Select | NP_001120680.1:p.His1382Arg |