Canonical Allele Identifier: CA916080533

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 859542
• ClinVar RCV Id: RCV001065677
• dbSNP Id: rs2072681486

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32355120_32355121del , CM000675.2:g.32355120_32355121del	GRCh38
NC_000013.10:g.32929257_32929258del , CM000675.1:g.32929257_32929258del	GRCh37
NC_000013.9:g.31827257_31827258del	NCBI36
NG_012772.3:g.44641_44642del , LRG_293:g.44641_44642del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7267_7268del	ENSP00000434898.2:p.Val2423Ter
ENST00000528762.2:c.7267_7268del	ENSP00000433168.2:p.Val2423Ter
ENST00000530893.7:c.6898_6899del	ENSP00000499438.2:p.Val2300Ter
ENST00000665585.2:c.7267_7268del	ENSP00000499570.2:p.Val2423Ter
ENST00000666593.2:c.7267_7268del	ENSP00000499256.2:p.Val2423Ter
ENST00000700202.2:c.7267_7268del	ENSP00000514856.2:p.Val2423Ter
ENST00000380152.8:c.7267_7268del MANE Select	ENSP00000369497.3:p.Val2423Ter
ENST00000544455.6:c.7267_7268del	ENSP00000439902.1:p.Val2423Ter
ENST00000614259.2:c.7267_7268del	ENSP00000506251.1:p.Val2423Ter
ENST00000680887.1:c.7267_7268del	ENSP00000505508.1:p.Val2423Ter
ENST00000380152.7:c.7267_7268del	ENSP00000369497.3:p.Val2423Ter
ENST00000544455.5:c.7267_7268del	ENSP00000439902.1:p.Val2423Ter
ENST00000614259.1:n.7267_7268del
NM_000059.3:c.7267_7268del , LRG_293t1:c.7267_7268del	NP_000050.2:p.Val2423Ter
XM_011535203.1:c.7267_7268del	XP_011533505.1:p.Val2423Ter
XM_011535204.1:c.7171_7172del	XP_011533506.1:p.Val2391Ter
XM_011535205.1:c.7267_7268del	XP_011533507.1:p.Val2423Ter
NM_000059.4:c.7267_7268del MANE Select	NP_000050.3:p.Val2423Ter