Canonical Allele Identifier: CA021343
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 51775
dbSNP Id: rs80359484

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339485_32339488del , CM000675.2:g.32339485_32339488del GRCh38
NC_000013.10:g.32913622_32913625del , CM000675.1:g.32913622_32913625del GRCh37
NC_000013.9:g.31811622_31811625del NCBI36
NG_012772.3:g.29006_29009del , LRG_293:g.29006_29009del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.5130_5133del ENSP00000434898.2:p.Tyr1710Ter
ENST00000528762.2:c.5130_5133del ENSP00000433168.2:p.Tyr1710Ter
ENST00000530893.7:c.4761_4764del ENSP00000499438.2:p.Tyr1587Ter
ENST00000665585.2:c.5130_5133del ENSP00000499570.2:p.Tyr1710Ter
ENST00000666593.2:c.5130_5133del ENSP00000499256.2:p.Tyr1710Ter
ENST00000700202.2:c.5130_5133del ENSP00000514856.2:p.Tyr1710Ter
ENST00000380152.8:c.5130_5133del MANE Select ENSP00000369497.3:p.Tyr1710Ter
ENST00000544455.6:c.5130_5133del ENSP00000439902.1:p.Tyr1710Ter
ENST00000614259.2:c.5130_5133del ENSP00000506251.1:p.Tyr1710Ter
ENST00000680887.1:c.5130_5133del ENSP00000505508.1:p.Tyr1710Ter
ENST00000380152.7:c.5130_5133del ENSP00000369497.3:p.Tyr1710Ter
ENST00000544455.5:c.5130_5133del ENSP00000439902.1:p.Tyr1710Ter
ENST00000614259.1:n.5130_5133del
NM_000059.3:c.5130_5133del , LRG_293t1:c.5130_5133del NP_000050.2:p.Tyr1710Ter
XM_011535203.1:c.5130_5133del XP_011533505.1:p.Tyr1710Ter
XM_011535204.1:c.5130_5133del XP_011533506.1:p.Tyr1710Ter
XM_011535205.1:c.5130_5133del XP_011533507.1:p.Tyr1710Ter
NM_000059.4:c.5130_5133del MANE Select NP_000050.3:p.Tyr1710Ter