Canonical Allele Identifier: CA1139663178

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 928770
• ClinVar RCV Id: RCV001193168
• dbSNP Id: rs2072873847

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376659_32376667del , CM000675.2:g.32376659_32376667del	GRCh38
NC_000013.10:g.32950796_32950804del , CM000675.1:g.32950796_32950804del	GRCh37
NC_000013.9:g.31848796_31848804del	NCBI36
NG_012772.3:g.66180_66188del , LRG_293:g.66180_66188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8633-11_8633-3del	ENSP00000434898.2:n.8633-11_8633-3del
ENST00000528762.2:c.8697-11_8697-3del	ENSP00000433168.2:n.8697-11_8697-3del
ENST00000530893.7:c.8264-11_8264-3del	ENSP00000499438.2:n.8264-11_8264-3del
ENST00000665585.2:c.*195-11_*195-3del	ENSP00000499570.2:n.*195-11_*195-3del
ENST00000666593.2:c.8633-11_8633-3del	ENSP00000499256.2:n.8633-11_8633-3del
ENST00000700202.2:c.8633-11_8633-3del	ENSP00000514856.2:n.8633-11_8633-3del
ENST00000700202.1:c.1100-11_1100-3del	ENSP00000514856.1:n.1100-11_1100-3del
ENST00000700203.1:n.749_757del
ENST00000380152.8:c.8633-11_8633-3del MANE Select	ENSP00000369497.3:n.8633-11_8633-3del
ENST00000544455.6:c.8633-11_8633-3del	ENSP00000439902.1:n.8633-11_8633-3del
ENST00000614259.2:c.8641-11_8641-3del	ENSP00000506251.1:n.8641-11_8641-3del
ENST00000665585.1:c.1511-11_1511-3del
ENST00000680887.1:c.8633-11_8633-3del	ENSP00000505508.1:n.8633-11_8633-3del
ENST00000380152.7:c.8633-11_8633-3del	ENSP00000369497.3:n.8633-11_8633-3del
ENST00000528762.1:c.195-11_195-3del	ENSP00000433168.1:n.195-11_195-3del
ENST00000544455.5:c.8633-11_8633-3del	ENSP00000439902.1:n.8633-11_8633-3del
NM_000059.3:c.8633-11_8633-3del , LRG_293t1:c.8633-11_8633-3del	NP_000050.2:n.8633-11_8633-3del
XM_011535203.1:c.8633-11_8633-3del	XP_011533505.1:n.8633-11_8633-3del
XM_011535204.1:c.8537-11_8537-3del	XP_011533506.1:n.8537-11_8537-3del
XM_011535205.1:c.8633-11_8633-3del	XP_011533507.1:n.8633-11_8633-3del
NM_000059.4:c.8633-11_8633-3del MANE Select	NP_000050.3:n.8633-11_8633-3del