Canonical Allele Identifier: CA2573053833

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1301391
• ClinVar RCV Id: RCV001733420
• dbSNP Id: rs2137665218

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398457_32398461del , CM000675.2:g.32398457_32398461del	GRCh38
NC_000013.10:g.32972594_32972598del , CM000675.1:g.32972594_32972598del	GRCh37
NC_000013.9:g.31870594_31870598del	NCBI36
NG_012772.3:g.87978_87982del , LRG_293:g.87978_87982del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*467_*471del	ENSP00000434898.2:n.*467_*471del
ENST00000528762.2:c.*1311_*1315del	ENSP00000433168.2:n.*1311_*1315del
ENST00000530893.7:c.9575_9579del	ENSP00000499438.2:p.Lys3192ThrfsTer10
ENST00000665585.2:c.*1506_*1510del	ENSP00000499570.2:n.*1506_*1510del
ENST00000700202.2:c.9893_9897del	ENSP00000514856.2:p.Lys3298ThrfsTer10
ENST00000700202.1:c.2360_2364del	ENSP00000514856.1:p.Lys787ThrfsTer10
ENST00000700203.1:n.2071_2075del
ENST00000380152.8:c.9944_9948del MANE Select	ENSP00000369497.3:p.Lys3315ThrfsTer10
ENST00000544455.6:c.9944_9948del	ENSP00000439902.1:p.Lys3315ThrfsTer10
ENST00000614259.2:c.9952_9956del	ENSP00000506251.1:n.9952_9956del
ENST00000680887.1:c.9944_9948del	ENSP00000505508.1:p.Lys3315ThrfsTer10
ENST00000380152.7:c.9944_9948del	ENSP00000369497.3:p.Lys3315ThrfsTer10
ENST00000544455.5:c.9944_9948del	ENSP00000439902.1:p.Lys3315ThrfsTer10
NM_000059.3:c.9944_9948del , LRG_293t1:c.9944_9948del	NP_000050.2:p.Lys3315ThrfsTer10
XM_011535203.1:c.9944_9948del	XP_011533505.1:p.Lys3315ThrfsTer10
XM_011535204.1:c.9848_9852del	XP_011533506.1:p.Lys3283ThrfsTer10
NM_000059.4:c.9944_9948del MANE Select	NP_000050.3:p.Lys3315ThrfsTer10