Canonical Allele Identifier: CA019576

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51602
• ClinVar RCV Id: RCV000044356 ; RCV000113277 ; RCV000220994 ; RCV003473336 ; RCV003137578
• dbSNP Id: rs80359430
• MyVariant Identifiers: chr13:g.32912625_32912628del (hg19) ; chr13:g.32338488_32338491del (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32338488_32338491del , CM000675.2:g.32338488_32338491del	GRCh38
NC_000013.10:g.32912625_32912628del , CM000675.1:g.32912625_32912628del	GRCh37
NC_000013.9:g.31810625_31810628del	NCBI36
NG_012772.3:g.28009_28012del , LRG_293:g.28009_28012del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.4133_4136del	ENSP00000434898.2:p.Thr1378ArgfsTer9
ENST00000528762.2:c.4133_4136del	ENSP00000433168.2:p.Thr1378ArgfsTer9
ENST00000530893.7:c.3764_3767del	ENSP00000499438.2:p.Thr1255ArgfsTer9
ENST00000665585.2:c.4133_4136del	ENSP00000499570.2:p.Thr1378ArgfsTer9
ENST00000666593.2:c.4133_4136del	ENSP00000499256.2:p.Thr1378ArgfsTer9
ENST00000700202.2:c.4133_4136del	ENSP00000514856.2:p.Thr1378ArgfsTer9
ENST00000380152.8:c.4133_4136del MANE Select	ENSP00000369497.3:p.Thr1378ArgfsTer9
ENST00000544455.6:c.4133_4136del	ENSP00000439902.1:p.Thr1378ArgfsTer9
ENST00000614259.2:c.4133_4136del	ENSP00000506251.1:p.Thr1378ArgfsTer9
ENST00000680887.1:c.4133_4136del	ENSP00000505508.1:p.Thr1378ArgfsTer9
ENST00000380152.7:c.4133_4136del	ENSP00000369497.3:p.Thr1378ArgfsTer9
ENST00000544455.5:c.4133_4136del	ENSP00000439902.1:p.Thr1378ArgfsTer9
ENST00000614259.1:n.4133_4136del
NM_000059.3:c.4133_4136del , LRG_293t1:c.4133_4136del	NP_000050.2:p.Thr1378ArgfsTer9
XM_011535203.1:c.4133_4136del	XP_011533505.1:p.Thr1378ArgfsTer9
XM_011535204.1:c.4133_4136del	XP_011533506.1:p.Thr1378ArgfsTer9
XM_011535205.1:c.4133_4136del	XP_011533507.1:p.Thr1378ArgfsTer9
NM_000059.4:c.4133_4136del MANE Select	NP_000050.3:p.Thr1378ArgfsTer9