Description

breast cancer 2, early onset [Source:HGNC Symbol;Acc:HGNC:1101]

Synonyms

BRCC2, FACD, FAD, FAD1, FANCD, FANCD1

Location
INSDC coordinates

chromosome:GRCh38:CM000675.2:32315474:32400266:1

Transcripts

This gene has 7 transcripts (splice variants) Show transcript tableHide transcript table

NameTranscript IDbpProteinBiotypeCCDSUniProtRefSeqFlags
BRCA2-001ENST00000380152119863418 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9344A0A068BCA9 A0A068BDS2 A0A068BFU2
A0A068BFW6 A0A068BFY4 A0A068BI47
K4JTT2 K4JXT6 K4K7W0
P51587 Q8IU64 Q8IU77
Q8IU82 Q9H4L3
-TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PIAPPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
BRCA2-201ENST00000544455109843418 aa
 
Protein codingGenes and/or transcript that contains an open reading frame (ORF).
CCDS9344A0A068BCA9 A0A068BDS2 A0A068BFU2
A0A068BFW6 A0A068BFY4 A0A068BI47
K4JTT2 K4JXT6 K4K7W0
P51587 Q8IU64 Q8IU77
Q8IU82 Q9H4L3
NM_000059
NP_000050
TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

GENCODE basicThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).APPRIS PIAPPRIS principal isoform
Glossary entry for APPRIS
APPRIS website
BRCA2-002ENST00000470094842186 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-A0A068BFU2 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:5

TSL5: No single transcript (mRNA or EST) supports this transcript model's structure.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA2-005ENST0000052876249564 aa
 
Nonsense mediated decayTranscript is thought to undergo nonsense mediated decay, a process which detects nonsense mutations and prevents the expression of truncated or erroneous proteins.
-H0YD86 -CDS 5' incomplete5' truncation in transcript evidence prevents annotation of the start of the CDS.TSL:4

TSL4:The best supporting EST for this transcript is flagged as suspect.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA2-004ENST000006142597950No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:2

TSL2: The best supporting mRNA is flagged as suspect or the support is from multiple ESTs.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA2-003ENST000005308932011No protein
 
Processed transcriptTranscripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.
---TSL:1

TSL1: All splice junctions of the transcript are supported by at least one non-suspect mRNA.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

BRCA2-006ENST00000533776523No protein
 
Retained intronAlternatively spliced transcript that is believed to contain intronic sequence relative to other coding transcripts in a given locus.
---TSL:3

TSL3:The only support for this transcript is from a single EST.

The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.

Gene-based displays