Canonical Allele Identifier: CA026152

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52836
• ClinVar RCV Id: RCV001389278 ; RCV003473434
• dbSNP Id: rs80359762
• MyVariant Identifiers: chr13:g.32968999del (hg19) ; chr13:g.32394862del (hg38)
• PubMed: PMID:16998791

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394862del , CM000675.2:g.32394862del	GRCh38
NC_000013.10:g.32968999del , CM000675.1:g.32968999del	GRCh37
NC_000013.9:g.31866999del	NCBI36
NG_012772.3:g.84383del , LRG_293:g.84383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9430del	ENSP00000434898.2:p.Ser3144LeufsTer19
ENST00000528762.2:c.*797del	ENSP00000433168.2:n.*797del
ENST00000530893.7:c.9061del	ENSP00000499438.2:p.Ser3021LeufsTer19
ENST00000665585.2:c.*992del	ENSP00000499570.2:n.*992del
ENST00000666593.2:c.*275del	ENSP00000499256.2:n.*275del
ENST00000700202.2:c.9379del	ENSP00000514856.2:p.Ser3127LeufsTer19
ENST00000700202.1:c.1846del	ENSP00000514856.1:p.Ser616LeufsTer19
ENST00000700203.1:n.1557del
ENST00000380152.8:c.9430del MANE Select	ENSP00000369497.3:p.Ser3144LeufsTer19
ENST00000544455.6:c.9430del	ENSP00000439902.1:p.Ser3144LeufsTer19
ENST00000614259.2:c.9438del	ENSP00000506251.1:n.9438del
ENST00000665585.1:c.2308del
ENST00000666593.1:c.452del	ENSP00000499256.1:n.452del
ENST00000680887.1:c.9430del	ENSP00000505508.1:p.Ser3144LeufsTer19
ENST00000380152.7:c.9430del	ENSP00000369497.3:p.Ser3144LeufsTer19
ENST00000470094.1:c.387del
ENST00000544455.5:c.9430del	ENSP00000439902.1:p.Ser3144LeufsTer19
NM_000059.3:c.9430del , LRG_293t1:c.9430del	NP_000050.2:p.Ser3144LeufsTer19
XM_011535203.1:c.9430del	XP_011533505.1:p.Ser3144LeufsTer19
XM_011535204.1:c.9334del	XP_011533506.1:p.Ser3112LeufsTer19
NM_000059.4:c.9430del MANE Select	NP_000050.3:p.Ser3144LeufsTer19