Canonical Allele Identifier: CA011132

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 125976
• ClinVar RCV Id: RCV000113002 ; RCV000131010 ; RCV000175515 ; RCV000205927 ; RCV000370664 ; RCV001705819 ; RCV001353870 ; RCV003149775
• dbSNP Id: rs76874770
• ExAC: 13:32890587 C / T
• gnomAD v2: 13-32890587-C-T
• gnomAD v3: 13-32316450-C-T
• gnomAD v4: 13-32316450-C-T
• MyVariant Identifiers: chr13:g.32890587C>T (hg19) ; chr13:g.32316450C>T (hg38)
• PubMed: PMID:12942367 ; PMID:12955716 ; PMID:15744044 ; PMID:20104584 ; PMID:21120943 ; PMID:22505045 ; PMID:22874498

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316450C>T , CM000675.2:g.32316450C>T	GRCh38
NC_000013.10:g.32890587C>T , CM000675.1:g.32890587C>T	GRCh37
NC_000013.9:g.31788587C>T	NCBI36
NG_012772.3:g.5971C>T , LRG_293:g.5971C>T
NG_017006.1:g.505G>A
NG_017006.2:g.3914G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.-11C>T	ENSP00000434898.2:n.-11C>T
ENST00000528762.2:c.-11C>T	ENSP00000433168.2:n.-11C>T
ENST00000530893.7:c.-376C>T	ENSP00000499438.2:n.-376C>T
ENST00000665585.2:c.-11C>T	ENSP00000499570.2:n.-11C>T
ENST00000666593.2:c.-11C>T	ENSP00000499256.2:n.-11C>T
ENST00000700202.2:c.-11C>T	ENSP00000514856.2:n.-11C>T
ENST00000700199.1:n.114C>T
ENST00000700200.1:n.114C>T
ENST00000700201.1:c.-11C>T	ENSP00000514855.1:n.-11C>T
ENST00000380152.8:c.-11C>T MANE Select	ENSP00000369497.3:n.-11C>T
ENST00000544455.6:c.-11C>T	ENSP00000439902.1:n.-11C>T
ENST00000680887.1:c.-11C>T	ENSP00000505508.1:n.-11C>T
ENST00000380152.7:c.-11C>T	ENSP00000369497.3:n.-11C>T
ENST00000530893.6:n.192C>T
ENST00000544455.5:c.-11C>T	ENSP00000439902.1:n.-11C>T
NM_000059.3:c.-11C>T , LRG_293t1:c.-11C>T	NP_000050.2:n.-11C>T
XM_011535203.1:c.-11C>T	XP_011533505.1:n.-11C>T
XM_011535204.1:c.-11C>T	XP_011533506.1:n.-11C>T
XM_011535205.1:c.-11C>T	XP_011533507.1:n.-11C>T
NM_000059.4:c.-11C>T MANE Select	NP_000050.3:n.-11C>T