Canonical Allele Identifier: CA015997

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51324
• ClinVar RCV Id: RCV000113337
• dbSNP Id: rs80359341
• MyVariant Identifiers: chr13:g.32893412del (hg19) ; chr13:g.32319275del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319275del , CM000675.2:g.32319275del	GRCh38
NC_000013.10:g.32893412del , CM000675.1:g.32893412del	GRCh37
NC_000013.9:g.31791412del	NCBI36
NG_012772.3:g.8796del , LRG_293:g.8796del
NG_017006.2:g.1090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.266del	ENSP00000434898.2:p.Pro89ArgfsTer7
ENST00000528762.2:c.266del	ENSP00000433168.2:p.Pro89ArgfsTer7
ENST00000530893.7:c.-104del	ENSP00000499438.2:n.-104del
ENST00000665585.2:c.266del	ENSP00000499570.2:p.Pro89ArgfsTer7
ENST00000666593.2:c.266del	ENSP00000499256.2:p.Pro89ArgfsTer7
ENST00000700202.2:c.266del	ENSP00000514856.2:p.Pro89ArgfsTer7
ENST00000700200.1:n.191+2748del
ENST00000700201.1:c.266del	ENSP00000514855.1:p.Pro89ArgfsTer7
ENST00000380152.8:c.266del MANE Select	ENSP00000369497.3:p.Pro89ArgfsTer7
ENST00000544455.6:c.266del	ENSP00000439902.1:p.Pro89ArgfsTer7
ENST00000614259.2:c.266del	ENSP00000506251.1:p.Pro89ArgfsTer7
ENST00000680887.1:c.266del	ENSP00000505508.1:p.Pro89ArgfsTer7
ENST00000380152.7:c.266del	ENSP00000369497.3:p.Pro89ArgfsTer7
ENST00000530893.6:n.464del
ENST00000544455.5:c.266del	ENSP00000439902.1:p.Pro89ArgfsTer7
ENST00000614259.1:n.266del
NM_000059.3:c.266del , LRG_293t1:c.266del	NP_000050.2:p.Pro89ArgfsTer7
XM_011535203.1:c.266del	XP_011533505.1:p.Pro89ArgfsTer7
XM_011535204.1:c.266del	XP_011533506.1:p.Pro89ArgfsTer7
XM_011535205.1:c.266del	XP_011533507.1:p.Pro89ArgfsTer7
NM_000059.4:c.266del MANE Select	NP_000050.3:p.Pro89ArgfsTer7