Canonical Allele Identifier: CA10576075

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 225755
• ClinVar RCV Id: RCV000211026 ; RCV000566832 ; RCV003477711 ; RCV000239309 ; RCV000496620
• dbSNP Id: rs869320799
• MyVariant Identifiers: chr13:g.32953629del (hg19) ; chr13:g.32379492del (hg38)
• PubMed: PMID:16912212 ; PMID:24010542 ; PMID:25395318 ; PMID:26295337 ; PMID:26300996 ; PMID:27882536

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379492del , CM000675.2:g.32379492del	GRCh38
NC_000013.10:g.32953629del , CM000675.1:g.32953629del	GRCh37
NC_000013.9:g.31851629del	NCBI36
NG_012772.3:g.69013del , LRG_293:g.69013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8930del	ENSP00000434898.2:p.Tyr2977PhefsTer11
ENST00000528762.2:c.*297del	ENSP00000433168.2:n.*297del
ENST00000530893.7:c.8561del	ENSP00000499438.2:p.Tyr2854PhefsTer11
ENST00000665585.2:c.*492del	ENSP00000499570.2:n.*492del
ENST00000666593.2:c.8930del	ENSP00000499256.2:p.Tyr2977PhefsTer11
ENST00000700202.2:c.8930del	ENSP00000514856.2:p.Tyr2977PhefsTer?
ENST00000700202.1:c.1397del	ENSP00000514856.1:p.Tyr466PhefsTer?
ENST00000700203.1:n.1057del
ENST00000380152.8:c.8930del MANE Select	ENSP00000369497.3:p.Tyr2977PhefsTer11
ENST00000544455.6:c.8930del	ENSP00000439902.1:p.Tyr2977PhefsTer11
ENST00000614259.2:c.8938del	ENSP00000506251.1:n.8938del
ENST00000665585.1:c.1808del
ENST00000680887.1:c.8930del	ENSP00000505508.1:p.Tyr2977PhefsTer11
ENST00000380152.7:c.8930del	ENSP00000369497.3:p.Tyr2977PhefsTer11
ENST00000528762.1:c.492del	ENSP00000433168.1:n.492del
ENST00000544455.5:c.8930del	ENSP00000439902.1:p.Tyr2977PhefsTer11
NM_000059.3:c.8930del , LRG_293t1:c.8930del	NP_000050.2:p.Tyr2977PhefsTer11
XM_011535203.1:c.8930del	XP_011533505.1:p.Tyr2977PhefsTer11
XM_011535204.1:c.8834del	XP_011533506.1:p.Tyr2945PhefsTer11
XM_011535205.1:c.8755-258del	XP_011533507.1:n.8755-258del
NM_000059.4:c.8930del MANE Select	NP_000050.3:p.Tyr2977PhefsTer11