Canonical Allele Identifier: CA024452

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38067
• ClinVar RCV Id: RCV001355178 ; RCV001719710
• dbSNP Id: rs276174879
• ExAC: 13:32905041 CTA / C
• gnomAD v2: 13-32905041-CTA-C
• gnomAD v3: 13-32330904-CTA-C
• gnomAD v4: 13-32330904-CTA-C
• MyVariant Identifiers: chr13:g.32905044_32905045del (hg19) ; chr13:g.32905042_32905043del (hg19) ; chr13:g.32330907_32330908del (hg38) ; chr13:g.32330906_32330907del (hg38) ; chr13:g.32330905_32330906del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32330907_32330908del , CM000675.2:g.32330907_32330908del	GRCh38
NC_000013.10:g.32905044_32905045del , CM000675.1:g.32905044_32905045del	GRCh37
NC_000013.9:g.31803044_31803045del	NCBI36
NG_012772.3:g.20428_20429del , LRG_293:g.20428_20429del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.682-12_682-11del	ENSP00000434898.2:n.682-12_682-11del
ENST00000528762.2:c.682-12_682-11del	ENSP00000433168.2:n.682-12_682-11del
ENST00000530893.7:c.313-12_313-11del	ENSP00000499438.2:n.313-12_313-11del
ENST00000665585.2:c.682-12_682-11del	ENSP00000499570.2:n.682-12_682-11del
ENST00000666593.2:c.682-12_682-11del	ENSP00000499256.2:n.682-12_682-11del
ENST00000700202.2:c.682-12_682-11del	ENSP00000514856.2:n.682-12_682-11del
ENST00000700201.1:c.*461-12_*461-11del	ENSP00000514855.1:n.*461-12_*461-11del
ENST00000380152.8:c.682-12_682-11del MANE Select	ENSP00000369497.3:n.682-12_682-11del
ENST00000544455.6:c.682-12_682-11del	ENSP00000439902.1:n.682-12_682-11del
ENST00000614259.2:c.682-12_682-11del	ENSP00000506251.1:n.682-12_682-11del
ENST00000680887.1:c.682-12_682-11del	ENSP00000505508.1:n.682-12_682-11del
ENST00000380152.7:c.682-12_682-11del	ENSP00000369497.3:n.682-12_682-11del
ENST00000530893.6:n.880-12_880-11del
ENST00000544455.5:c.682-12_682-11del	ENSP00000439902.1:n.682-12_682-11del
ENST00000614259.1:n.682-12_682-11del
NM_000059.3:c.682-12_682-11del , LRG_293t1:c.682-12_682-11del	NP_000050.2:n.682-12_682-11del
XM_011535203.1:c.682-12_682-11del	XP_011533505.1:n.682-12_682-11del
XM_011535204.1:c.682-12_682-11del	XP_011533506.1:n.682-12_682-11del
XM_011535205.1:c.682-12_682-11del	XP_011533507.1:n.682-12_682-11del
NM_000059.4:c.682-12_682-11del MANE Select	NP_000050.3:n.682-12_682-11del