Canonical Allele Identifier: CA026071

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 187585
• ClinVar RCV Id: RCV000167328 ; RCV000241199 ; RCV001850367
• dbSNP Id: rs786203843
• MyVariant Identifiers: chr13:g.32968831del (hg19) ; chr13:g.32394694del (hg38)
• PubMed: PMID:20859677

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394694del , CM000675.2:g.32394694del	GRCh38
NC_000013.10:g.32968831del , CM000675.1:g.32968831del	GRCh37
NC_000013.9:g.31866831del	NCBI36
NG_012772.3:g.84215del , LRG_293:g.84215del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9262del	ENSP00000434898.2:p.Ala3088ProfsTer16
ENST00000528762.2:c.*629del	ENSP00000433168.2:n.*629del
ENST00000530893.7:c.8893del	ENSP00000499438.2:p.Ala2965ProfsTer16
ENST00000665585.2:c.*824del	ENSP00000499570.2:n.*824del
ENST00000666593.2:c.*107del	ENSP00000499256.2:n.*107del
ENST00000700202.2:c.9211del	ENSP00000514856.2:p.Ala3071ProfsTer16
ENST00000700202.1:c.1678del	ENSP00000514856.1:p.Ala560ProfsTer16
ENST00000700203.1:n.1389del
ENST00000380152.8:c.9262del MANE Select	ENSP00000369497.3:p.Ala3088ProfsTer16
ENST00000544455.6:c.9262del	ENSP00000439902.1:p.Ala3088ProfsTer16
ENST00000614259.2:c.9270del	ENSP00000506251.1:n.9270del
ENST00000665585.1:c.2140del
ENST00000666593.1:c.284del	ENSP00000499256.1:n.284del
ENST00000680887.1:c.9262del	ENSP00000505508.1:p.Ala3088ProfsTer16
ENST00000380152.7:c.9262del	ENSP00000369497.3:p.Ala3088ProfsTer16
ENST00000470094.1:c.219del
ENST00000544455.5:c.9262del	ENSP00000439902.1:p.Ala3088ProfsTer16
NM_000059.3:c.9262del , LRG_293t1:c.9262del	NP_000050.2:p.Ala3088ProfsTer16
XM_011535203.1:c.9262del	XP_011533505.1:p.Ala3088ProfsTer16
XM_011535204.1:c.9166del	XP_011533506.1:p.Ala3056ProfsTer16
NM_000059.4:c.9262del MANE Select	NP_000050.3:p.Ala3088ProfsTer16