Canonical Allele Identifier: CA2695199703

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2674544
• ClinVar RCV Id: RCV003452738

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371001del , CM000675.2:g.32371001del	GRCh38
NC_000013.10:g.32945138del , CM000675.1:g.32945138del	GRCh37
NC_000013.9:g.31843138del	NCBI36
NG_012772.3:g.60522del , LRG_293:g.60522del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8533del	ENSP00000434898.2:p.Arg2845GlufsTer18
ENST00000528762.2:c.8533del	ENSP00000433168.2:p.Arg2845GlufsTer18
ENST00000530893.7:c.8164del	ENSP00000499438.2:p.Arg2722GlufsTer18
ENST00000665585.2:c.8533del	ENSP00000499570.2:p.Arg2845GlufsTer18
ENST00000666593.2:c.8533del	ENSP00000499256.2:p.Arg2845GlufsTer18
ENST00000700202.2:c.8533del	ENSP00000514856.2:p.Arg2845GlufsTer18
ENST00000700202.1:c.1000del	ENSP00000514856.1:p.Arg334GlufsTer18
ENST00000380152.8:c.8533del MANE Select	ENSP00000369497.3:p.Arg2845GlufsTer18
ENST00000544455.6:c.8533del	ENSP00000439902.1:p.Arg2845GlufsTer18
ENST00000614259.2:c.8541del	ENSP00000506251.1:n.8541del
ENST00000665585.1:c.1098del
ENST00000680887.1:c.8533del	ENSP00000505508.1:p.Arg2845GlufsTer18
ENST00000380152.7:c.8533del	ENSP00000369497.3:p.Arg2845GlufsTer18
ENST00000528762.1:c.31del	ENSP00000433168.1:p.Arg11GlufsTer18
ENST00000544455.5:c.8533del	ENSP00000439902.1:p.Arg2845GlufsTer18
NM_000059.3:c.8533del , LRG_293t1:c.8533del	NP_000050.2:p.Arg2845GlufsTer18
XM_011535203.1:c.8533del	XP_011533505.1:p.Arg2845GlufsTer18
XM_011535204.1:c.8437del	XP_011533506.1:p.Arg2813GlufsTer18
XM_011535205.1:c.8533del	XP_011533507.1:p.Arg2845GlufsTer18
NM_000059.4:c.8533del MANE Select	NP_000050.3:p.Arg2845GlufsTer18