Canonical Allele Identifier: CA025865

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38192
• ClinVar RCV Id: RCV000031775 ; RCV000045650 ; RCV000131370 ; RCV000216861 ; RCV000735615 ; RCV001353455 ; RCV002272034 ; RCV002482935
• dbSNP Id: rs80359730
• gnomAD v3: 13-32379464-AC-A
• gnomAD v4: 13-32379464-AC-A
• MyVariant Identifiers: chr13:g.32953603del (hg19) ; chr13:g.32953602del (hg19) ; chr13:g.32379466del (hg38) ; chr13:g.32379465del (hg38)
• PubMed: PMID:9667259 ; PMID:12960223 ; PMID:15026808 ; PMID:21305653 ; PMID:21952622 ; PMID:23035815

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379466del , CM000675.2:g.32379466del	GRCh38
NC_000013.10:g.32953603del , CM000675.1:g.32953603del	GRCh37
NC_000013.9:g.31851603del	NCBI36
NG_012772.3:g.68987del , LRG_293:g.68987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8904del	ENSP00000434898.2:p.Val2969CysfsTer7
ENST00000528762.2:c.*271del	ENSP00000433168.2:n.*271del
ENST00000530893.7:c.8535del	ENSP00000499438.2:p.Val2846CysfsTer7
ENST00000665585.2:c.*466del	ENSP00000499570.2:n.*466del
ENST00000666593.2:c.8904del	ENSP00000499256.2:p.Val2969CysfsTer7
ENST00000700202.2:c.8904del	ENSP00000514856.2:p.Val2969CysfsTer7
ENST00000700202.1:c.1371del	ENSP00000514856.1:p.Val458CysfsTer7
ENST00000700203.1:n.1031del
ENST00000380152.8:c.8904del MANE Select	ENSP00000369497.3:p.Val2969CysfsTer7
ENST00000544455.6:c.8904del	ENSP00000439902.1:p.Val2969CysfsTer7
ENST00000614259.2:c.8912del	ENSP00000506251.1:n.8912del
ENST00000665585.1:c.1782del
ENST00000680887.1:c.8904del	ENSP00000505508.1:p.Val2969CysfsTer7
ENST00000380152.7:c.8904del	ENSP00000369497.3:p.Val2969CysfsTer7
ENST00000528762.1:c.466del	ENSP00000433168.1:n.466del
ENST00000544455.5:c.8904del	ENSP00000439902.1:p.Val2969CysfsTer7
NM_000059.3:c.8904del , LRG_293t1:c.8904del	NP_000050.2:p.Val2969CysfsTer7
XM_011535203.1:c.8904del	XP_011533505.1:p.Val2969CysfsTer7
XM_011535204.1:c.8808del	XP_011533506.1:p.Val2937CysfsTer7
XM_011535205.1:c.8755-284del	XP_011533507.1:n.8755-284del
NM_000059.4:c.8904del MANE Select	NP_000050.3:p.Val2969CysfsTer7