Canonical Allele Identifier: CA2580087356

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1746133
• ClinVar RCV Id: RCV002340795

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339572_32339574del , CM000675.2:g.32339572_32339574del	GRCh38
NC_000013.10:g.32913709_32913711del , CM000675.1:g.32913709_32913711del	GRCh37
NC_000013.9:g.31811709_31811711del	NCBI36
NG_012772.3:g.29093_29095del , LRG_293:g.29093_29095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5217_5219del	ENSP00000434898.2:p.Tyr1739Ter
ENST00000528762.2:c.5217_5219del	ENSP00000433168.2:p.Tyr1739Ter
ENST00000530893.7:c.4848_4850del	ENSP00000499438.2:p.Tyr1616Ter
ENST00000665585.2:c.5217_5219del	ENSP00000499570.2:p.Tyr1739Ter
ENST00000666593.2:c.5217_5219del	ENSP00000499256.2:p.Tyr1739Ter
ENST00000700202.2:c.5217_5219del	ENSP00000514856.2:p.Tyr1739Ter
ENST00000380152.8:c.5217_5219del MANE Select	ENSP00000369497.3:p.Tyr1739Ter
ENST00000544455.6:c.5217_5219del	ENSP00000439902.1:p.Tyr1739Ter
ENST00000614259.2:c.5217_5219del	ENSP00000506251.1:p.Tyr1739Ter
ENST00000680887.1:c.5217_5219del	ENSP00000505508.1:p.Tyr1739Ter
ENST00000380152.7:c.5217_5219del	ENSP00000369497.3:p.Tyr1739Ter
ENST00000544455.5:c.5217_5219del	ENSP00000439902.1:p.Tyr1739Ter
ENST00000614259.1:n.5217_5219del
NM_000059.3:c.5217_5219del , LRG_293t1:c.5217_5219del	NP_000050.2:p.Tyr1739Ter
XM_011535203.1:c.5217_5219del	XP_011533505.1:p.Tyr1739Ter
XM_011535204.1:c.5217_5219del	XP_011533506.1:p.Tyr1739Ter
XM_011535205.1:c.5217_5219del	XP_011533507.1:p.Tyr1739Ter
NM_000059.4:c.5217_5219del MANE Select	NP_000050.3:p.Tyr1739Ter