Canonical Allele Identifier: CA645372559

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 433741
• ClinVar RCV Id: RCV000500593
• dbSNP Id: rs1555279965
• MyVariant Identifiers: chr13:g.32889794_32889796del (hg19) ; chr13:g.32315657_32315659del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32315657_32315659del , CM000675.2:g.32315657_32315659del	GRCh38
NC_000013.10:g.32889794_32889796del , CM000675.1:g.32889794_32889796del	GRCh37
NC_000013.9:g.31787794_31787796del	NCBI36
NG_012772.3:g.5178_5180del , LRG_293:g.5178_5180del
NG_017006.1:g.1297_1299del
NG_017006.2:g.4706_4708del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.-50_-48del	ENSP00000434898.2:n.-50_-48del
ENST00000528762.2:c.-50_-48del	ENSP00000433168.2:n.-50_-48del
ENST00000530893.7:c.-415_-413del	ENSP00000499438.2:n.-415_-413del
ENST00000665585.2:c.-50_-48del	ENSP00000499570.2:n.-50_-48del
ENST00000666593.2:c.-50_-48del	ENSP00000499256.2:n.-50_-48del
ENST00000700202.2:c.-50_-48del	ENSP00000514856.2:n.-50_-48del
ENST00000700199.1:n.75_77del
ENST00000700200.1:n.75_77del
ENST00000700201.1:c.-50_-48del	ENSP00000514855.1:n.-50_-48del
ENST00000380152.8:c.-50_-48del MANE Select	ENSP00000369497.3:n.-50_-48del
ENST00000544455.6:c.-40+512_-40+514del	ENSP00000439902.1:n.-40+512_-40+514del
ENST00000380152.7:c.-50_-48del	ENSP00000369497.3:n.-50_-48del
ENST00000530893.6:n.153_155del
ENST00000544455.5:c.-50_-48del	ENSP00000439902.1:n.-50_-48del
NM_000059.3:c.-50_-48del , LRG_293t1:c.-50_-48del	NP_000050.2:n.-50_-48del
XM_011535203.1:c.-40+512_-40+514del	XP_011533505.1:n.-40+512_-40+514del
XM_011535204.1:c.-50_-48del	XP_011533506.1:n.-50_-48del
XM_011535205.1:c.-50_-48del	XP_011533507.1:n.-50_-48del
NM_000059.4:c.-50_-48del MANE Select	NP_000050.3:n.-50_-48del