Linked Data
ClinVar Variation Id:
135308
dbSNP Id:
rs111948941
ExAC:
4:106155199 C / T
gnomAD v2:
4-106155199-C-T
gnomAD v3:
4-105234042-C-T
gnomAD v4:
4-105234042-C-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.105234042C>T , CM000666.2:g.105234042C>T | GRCh38 |
| NC_000004.11:g.106155199C>T , CM000666.1:g.106155199C>T | GRCh37 |
| NC_000004.10:g.106374648C>T | NCBI36 |
| NG_028191.1:g.93168C>T , LRG_626:g.93168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380013.9:c.100C>T (TET2) MANE Select | ENSP00000369351.4:p.Leu34Phe | |
| ENST00000265149.9:c.100C>T (TET2) | ENSP00000265149.5:p.Leu34Phe | |
| ENST00000305737.6:c.100C>T (TET2) | ENSP00000306705.2:p.Leu34Phe | |
| ENST00000380013.8:c.100C>T (TET2) | ENSP00000369351.4:p.Leu34Phe | |
| ENST00000394764.2:c.100C>T (TET2) | ENSP00000378245.2:p.Leu34Phe | |
| ENST00000413648.2:c.100C>T (TET2) | ENSP00000391448.2:p.Leu34Phe | |
| ENST00000513237.5:c.163C>T (TET2) | ENSP00000425443.1:p.Leu55Phe | |
| ENST00000514870.1:c.100C>T (TET2) | ENSP00000426885.1:p.Leu34Phe | |
| ENST00000540549.5:c.100C>T (TET2) | ENSP00000442788.1:p.Leu34Phe | |
| NM_001127208.2:c.100C>T , LRG_626t1:c.100C>T (TET2) | NP_001120680.1:p.Leu34Phe | |
| NM_017628.4:c.100C>T , LRG_626t2:c.100C>T (TET2) | NP_060098.3:p.Leu34Phe | |
| NR_126420.1:n.319-56370G>A (TET2-AS1) | ||
| XM_005263082.1:c.100C>T (TET2) | XP_005263139.1:p.Leu34Phe | |
| XM_006714242.2:c.100C>T (TET2) | XP_006714305.1:p.Leu34Phe | |
| XM_011532043.1:c.100C>T (TET2) | XP_011530345.1:p.Leu34Phe | |
| XR_244633.2:n.396C>T (TET2) | ||
| XR_244634.2:n.396C>T (TET2) | ||
| XR_427546.2:n.396C>T (TET2) | ||
| XR_938746.1:n.396C>T (TET2) | ||
| XR_938747.1:n.396C>T (TET2) | ||
| XM_005263082.3:c.100C>T (TET2) | XP_005263139.1:p.Leu34Phe | |
| XM_006714242.3:c.100C>T (TET2) | XP_006714305.1:p.Leu34Phe | |
| XM_017008319.1:c.100C>T (TET2) | XP_016863808.1:p.Leu34Phe | |
| XM_024454102.1:c.100C>T (TET2) | XP_024309870.1:p.Leu34Phe | |
| XM_024454103.1:c.100C>T (TET2) | XP_024309871.1:p.Leu34Phe | |
| XR_001741246.1:n.431C>T (TET2) | ||
| XR_244633.3:n.431C>T (TET2) | ||
| XR_427546.4:n.431C>T (TET2) | ||
| XR_938746.2:n.431C>T (TET2) | ||
| XR_938747.3:n.431C>T (TET2) | ||
| NM_001127208.3:c.100C>T (TET2) MANE Select | NP_001120680.1:p.Leu34Phe |