Canonical Allele Identifier: CA354140

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 224524
• ClinVar RCV Id: RCV000210188 ; RCV000661490 ; RCV002444841 ; RCV001853359
• dbSNP Id: rs869312760
• MyVariant Identifiers: chr13:g.32944626_32944635del (hg19) ; chr13:g.32370489_32370498del (hg38)
• PubMed: PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370489_32370498del , CM000675.2:g.32370489_32370498del	GRCh38
NC_000013.10:g.32944626_32944635del , CM000675.1:g.32944626_32944635del	GRCh37
NC_000013.9:g.31842626_31842635del	NCBI36
NG_012772.3:g.60010_60019del , LRG_293:g.60010_60019del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8419_8428del	ENSP00000434898.2:p.Ser2807ValfsTer11
ENST00000528762.2:c.8419_8428del	ENSP00000433168.2:p.Ser2807ValfsTer11
ENST00000530893.7:c.8050_8059del	ENSP00000499438.2:p.Ser2684ValfsTer11
ENST00000665585.2:c.8419_8428del	ENSP00000499570.2:p.Ser2807ValfsTer11
ENST00000666593.2:c.8419_8428del	ENSP00000499256.2:p.Ser2807ValfsTer11
ENST00000700202.2:c.8419_8428del	ENSP00000514856.2:p.Ser2807ValfsTer11
ENST00000700202.1:c.886_895del	ENSP00000514856.1:p.Ser296ValfsTer11
ENST00000380152.8:c.8419_8428del MANE Select	ENSP00000369497.3:p.Ser2807ValfsTer11
ENST00000544455.6:c.8419_8428del	ENSP00000439902.1:p.Ser2807ValfsTer11
ENST00000614259.2:c.8427_8436del	ENSP00000506251.1:n.8427_8436del
ENST00000665585.1:c.984_993del
ENST00000680887.1:c.8419_8428del	ENSP00000505508.1:p.Ser2807ValfsTer11
ENST00000380152.7:c.8419_8428del	ENSP00000369497.3:p.Ser2807ValfsTer11
ENST00000544455.5:c.8419_8428del	ENSP00000439902.1:p.Ser2807ValfsTer11
NM_000059.3:c.8419_8428del , LRG_293t1:c.8419_8428del	NP_000050.2:p.Ser2807ValfsTer11
XM_011535203.1:c.8419_8428del	XP_011533505.1:p.Ser2807ValfsTer11
XM_011535204.1:c.8323_8332del	XP_011533506.1:p.Ser2775ValfsTer11
XM_011535205.1:c.8419_8428del	XP_011533507.1:p.Ser2807ValfsTer11
NM_000059.4:c.8419_8428del MANE Select	NP_000050.3:p.Ser2807ValfsTer11