Human (GRCh38.p14)
Description

BLM RecQ like helicase [Source:HGNC Symbol;Acc:HGNC:1058]

Gene Synonyms

BS, RECQ2, RECQL3

Location
About this transcript

This transcript has 4 exons, is associated with 3115 variant alleles and maps to 234 oligo probes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeq MatchFlags
ENST00000355112.8BLM-20152401417aaENSP00000347232.3
 
Protein coding
CCDS10363P54132 NM_000057.4MANE SelectEnsembl CanonicalGENCODE basicAPPRIS P2TSL:1
ENST00000680772.1BLM-21250331417aaENSP00000506117.1
 
Protein coding
CCDS10363P54132 -GENCODE basicAPPRIS P2
ENST00000648453.1BLM-21145221386aaENSP00000497646.1
 
Protein coding
A0A3B3IT82 -GENCODE basicAPPRIS ALT2
ENST00000681142.1BLM-21342701372aaENSP00000506682.1
 
Protein coding
A0A7P0TBM9 -GENCODE basicAPPRIS ALT2
ENST00000560509.5BLM-20839661286aaENSP00000454158.1
 
Protein coding
CCDS73782H0YNU5 -GENCODE basicTSL:1
ENST00000559724.5BLM-2064510413aaENSP00000453359.1
 
Nonsense mediated decay
H0YLV8 -TSL:1
ENST00000560136.5BLM-2072023No protein-
 
Protein coding CDS not defined
--TSL:5
ENST00000560821.1BLM-2101024No protein-
 
Protein coding CDS not defined
--TSL:2
ENST00000559282.1BLM-204866No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000558599.1BLM-202577No protein-
 
Protein coding CDS not defined
--TSL:3
ENST00000559426.5BLM-205533No protein-
 
Protein coding CDS not defined
--TSL:4
ENST00000560559.2BLM-2092967No protein-
 
Retained intron
--TSL:3
ENST00000558825.5BLM-2031683No protein-
 
Retained intron
--TSL:5
Statistics

Exons: 4, Coding exons: 0, Transcript length: 1,024 bps,

Transcript Support Level (TSL)

TSL:2

Version

ENST00000560821.1

Type

Protein coding CDS not defined

Annotation Method

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