Canonical Allele Identifier: CA16619804

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 421990
• ClinVar RCV Id: RCV000562008 ; RCV000637916 ; RCV001451625
• dbSNP Id: rs1064795488
• MyVariant Identifiers: chr13:g.32972833del (hg19) ; chr13:g.32398696del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398696del , CM000675.2:g.32398696del	GRCh38
NC_000013.10:g.32972833del , CM000675.1:g.32972833del	GRCh37
NC_000013.9:g.31870833del	NCBI36
NG_012772.3:g.88217del , LRG_293:g.88217del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*706del	ENSP00000434898.2:n.*706del
ENST00000528762.2:c.*1550del	ENSP00000433168.2:n.*1550del
ENST00000530893.7:c.9814del	ENSP00000499438.2:p.Glu3272ArgfsTer?
ENST00000665585.2:c.*1745del	ENSP00000499570.2:n.*1745del
ENST00000700202.2:c.10132del	ENSP00000514856.2:p.Glu3378ArgfsTer?
ENST00000700202.1:c.2599del	ENSP00000514856.1:p.Glu867ArgfsTer?
ENST00000700203.1:n.2310del
ENST00000380152.8:c.10183del MANE Select	ENSP00000369497.3:p.Glu3395ArgfsTer?
ENST00000544455.6:c.10183del	ENSP00000439902.1:p.Glu3395ArgfsTer?
ENST00000614259.2:c.10191del	ENSP00000506251.1:n.10191del
ENST00000680887.1:c.10183del	ENSP00000505508.1:p.Glu3395ArgfsTer?
ENST00000380152.7:c.10183del	ENSP00000369497.3:p.Glu3395ArgfsTer?
ENST00000544455.5:c.10183del	ENSP00000439902.1:p.Glu3395ArgfsTer?
NM_000059.3:c.10183del , LRG_293t1:c.10183del	NP_000050.2:p.Glu3395ArgfsTer?
XM_011535203.1:c.10183del	XP_011533505.1:p.Glu3395ArgfsTer?
XM_011535204.1:c.10087del	XP_011533506.1:p.Glu3363ArgfsTer?
NM_000059.4:c.10183del MANE Select	NP_000050.3:p.Glu3395ArgfsTer?