Canonical Allele Identifier: CA2695199254

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2674520
• ClinVar RCV Id: RCV003452715

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333191del , CM000675.2:g.32333191del	GRCh38
NC_000013.10:g.32907328del , CM000675.1:g.32907328del	GRCh37
NC_000013.9:g.31805328del	NCBI36
NG_012772.3:g.22712del , LRG_293:g.22712del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1713del	ENSP00000434898.2:p.Val572Ter
ENST00000528762.2:c.1713del	ENSP00000433168.2:p.Val572Ter
ENST00000530893.7:c.1344del	ENSP00000499438.2:p.Val449Ter
ENST00000665585.2:c.1713del	ENSP00000499570.2:p.Val572Ter
ENST00000666593.2:c.1713del	ENSP00000499256.2:p.Val572Ter
ENST00000700202.2:c.1713del	ENSP00000514856.2:p.Val572Ter
ENST00000700201.1:c.*1492del	ENSP00000514855.1:n.*1492del
ENST00000380152.8:c.1713del MANE Select	ENSP00000369497.3:p.Val572Ter
ENST00000544455.6:c.1713del	ENSP00000439902.1:p.Val572Ter
ENST00000614259.2:c.1713del	ENSP00000506251.1:p.Val572Ter
ENST00000680887.1:c.1713del	ENSP00000505508.1:p.Val572Ter
ENST00000380152.7:c.1713del	ENSP00000369497.3:p.Val572Ter
ENST00000530893.6:n.1911del
ENST00000544455.5:c.1713del	ENSP00000439902.1:p.Val572Ter
ENST00000614259.1:n.1713del
NM_000059.3:c.1713del , LRG_293t1:c.1713del	NP_000050.2:p.Val572Ter
XM_011535203.1:c.1713del	XP_011533505.1:p.Val572Ter
XM_011535204.1:c.1713del	XP_011533506.1:p.Val572Ter
XM_011535205.1:c.1713del	XP_011533507.1:p.Val572Ter
NM_000059.4:c.1713del MANE Select	NP_000050.3:p.Val572Ter