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Human (GRCh37.p13)
Description

Fanconi anemia, complementation group D2 [Source:HGNC Symbol;Acc:3585]

Gene Synonyms

FA-D2, FA4, FACD, FAD, FAD2, FANCD

Location
About this transcript

This transcript has 8 exons, is annotated with 2 domains and features, is associated with 6660 variant alleles and maps to 349 oligo probes.

Gene
Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000287647.3FANCD2-00152191471aaENSP00000287647.3
 
Protein coding
CCDS2595Q9BXW9 NM_033084.3Ensembl CanonicalGENCODE basic
ENST00000419585.1FANCD2-00251851451aaENSP00000398754.1
 
Protein coding
CCDS33696Q9BXW9 -GENCODE basic
ENST00000383807.1FANCD2-20251021451aaENSP00000373318.1
 
Protein coding
CCDS33696Q9BXW9 NM_001018115.1GENCODE basic
ENST00000383806.1FANCD2-20150081249aaENSP00000373317.1
 
Protein coding
Q9BXW9 -GENCODE basic
ENST00000431693.1FANCD2-0032450241aaENSP00000399354.1
 
Protein coding
Q9BXW9 -GENCODE basic
ENST00000421731.1FANCD2-0043425749aaENSP00000389936.1
 
Nonsense mediated decay
--CDS 5' incomplete
ENST00000435522.1FANCD2-00556738aaENSP00000402166.1
 
Nonsense mediated decay
F8WE37 --
ENST00000438741.1FANCD2-008558No protein-
 
Processed transcript
---
ENST00000470757.1FANCD2-011547No protein-
 
Processed transcript
---
ENST00000483276.1FANCD2-006505No protein-
 
Processed transcript
---
ENST00000470028.1FANCD2-012449No protein-
 
Processed transcript
---
ENST00000480909.1FANCD2-010603No protein-
 
Retained intron
---
ENST00000464934.1FANCD2-007563No protein-
 
Retained intron
---
Statistics

Exons: 8, Coding exons: 8, Transcript length: 2,450 bps, Translation length: 241 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q9BXW9

Version

ENST00000431693.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:
OTTHUMT00000339874 (version 1)
GENCODE basic gene

This transcript is a member of the Gencode basic gene set.