Information on TCN2
Basic details
Alt. symbols: D22S676 | D22S750 | TC2
Approved name: transcobalamin 2
Alt. names: transcobalamin II; macrocytic anemia, transcobalamin II | macrocytic anemia
Location: 22q12.2: 30607003 - 30627271 (+)
Gene type: protein_coding, 18 transcripts.
Scores: LoFtool: 0.808000 | pLI: 0.02228955 | LOEUF: 0.930
Normal function
Dysfunction and disease
Transcobalamin II deficiency [MIM:275350] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
1639 |
Transcobalamin II deficiency | AR |
275350 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of TCN2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000407817.3 | CCDS54519 | protein_coding | 9 | No | 1870 | NM_001184726 | ||
| 201 | ENST00000215838.8 | 1 | CCDS13881 | Select | protein_coding | 9 | Yes | 2192 | NM_000355 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in TCN2
| ID | Year | Title | Journal | PMID | Variants |
|---|