Canonical Allele Identifier: CA2573053829

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1329997
• ClinVar RCV Id: RCV001801014
• dbSNP Id: rs2137625817

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380134_32380140del , CM000675.2:g.32380134_32380140del	GRCh38
NC_000013.10:g.32954271_32954277del , CM000675.1:g.32954271_32954277del	GRCh37
NC_000013.9:g.31852271_31852277del	NCBI36
NG_012772.3:g.69655_69661del , LRG_293:g.69655_69661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9245_9251del	ENSP00000434898.2:p.Val3082GlufsTer20
ENST00000528762.2:c.*612_*618del	ENSP00000433168.2:n.*612_*618del
ENST00000530893.7:c.8876_8882del	ENSP00000499438.2:p.Val2959GlufsTer20
ENST00000665585.2:c.*807_*813del	ENSP00000499570.2:n.*807_*813del
ENST00000666593.2:c.9245_9251del	ENSP00000499256.2:p.Val3082GlufsTer3
ENST00000700202.2:c.9194_9200del	ENSP00000514856.2:p.Val3065GlufsTer20
ENST00000700202.1:c.1661_1667del	ENSP00000514856.1:p.Val554GlufsTer20
ENST00000700203.1:n.1372_1378del
ENST00000380152.8:c.9245_9251del MANE Select	ENSP00000369497.3:p.Val3082GlufsTer20
ENST00000544455.6:c.9245_9251del	ENSP00000439902.1:p.Val3082GlufsTer20
ENST00000614259.2:c.9253_9259del	ENSP00000506251.1:n.9253_9259del
ENST00000665585.1:c.2123_2129del
ENST00000666593.1:c.128_134del	ENSP00000499256.1:p.Val43GlufsTer3
ENST00000680887.1:c.9245_9251del	ENSP00000505508.1:p.Val3082GlufsTer20
ENST00000380152.7:c.9245_9251del	ENSP00000369497.3:p.Val3082GlufsTer20
ENST00000470094.1:c.202_208del
ENST00000544455.5:c.9245_9251del	ENSP00000439902.1:p.Val3082GlufsTer20
NM_000059.3:c.9245_9251del , LRG_293t1:c.9245_9251del	NP_000050.2:p.Val3082GlufsTer20
XM_011535203.1:c.9245_9251del	XP_011533505.1:p.Val3082GlufsTer20
XM_011535204.1:c.9149_9155del	XP_011533506.1:p.Val3050GlufsTer20
NM_000059.4:c.9245_9251del MANE Select	NP_000050.3:p.Val3082GlufsTer20