Canonical Allele Identifier: CA010347

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51049
• ClinVar RCV Id: RCV000043720 ; RCV000112844 ; RCV000438903 ; RCV000565885 ; RCV000677846
• dbSNP Id: rs397507568
• ExAC: 13:32972800 C / T
• gnomAD v2: 13-32972800-C-T
• gnomAD v3: 13-32398663-C-T
• gnomAD v4: 13-32398663-C-T
• COSMIC: COSM1178843 ; COSM1178844
• MyVariant Identifiers: chr13:g.32972800C>T (hg19) ; chr13:g.32398663C>T (hg38)
• PubMed: PMID:8896551 ; PMID:16949048 ; PMID:20104584 ; PMID:25863477

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398663C>T , CM000675.2:g.32398663C>T	GRCh38
NC_000013.10:g.32972800C>T , CM000675.1:g.32972800C>T	GRCh37
NC_000013.9:g.31870800C>T	NCBI36
NG_012772.3:g.88184C>T , LRG_293:g.88184C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*673C>T	ENSP00000434898.2:n.*673C>T
ENST00000528762.2:c.*1517C>T	ENSP00000433168.2:n.*1517C>T
ENST00000530893.7:c.9781C>T	ENSP00000499438.2:p.Arg3261Ter
ENST00000665585.2:c.*1712C>T	ENSP00000499570.2:n.*1712C>T
ENST00000700202.2:c.10099C>T	ENSP00000514856.2:p.Arg3367Ter
ENST00000700202.1:c.2566C>T	ENSP00000514856.1:p.Arg856Ter
ENST00000700203.1:n.2277C>T
ENST00000380152.8:c.10150C>T MANE Select	ENSP00000369497.3:p.Arg3384Ter
ENST00000544455.6:c.10150C>T	ENSP00000439902.1:p.Arg3384Ter
ENST00000614259.2:c.10158C>T	ENSP00000506251.1:n.10158C>T
ENST00000680887.1:c.10150C>T	ENSP00000505508.1:p.Arg3384Ter
ENST00000380152.7:c.10150C>T	ENSP00000369497.3:p.Arg3384Ter
ENST00000544455.5:c.10150C>T	ENSP00000439902.1:p.Arg3384Ter
NM_000059.3:c.10150C>T , LRG_293t1:c.10150C>T	NP_000050.2:p.Arg3384Ter
XM_011535203.1:c.10150C>T	XP_011533505.1:p.Arg3384Ter
XM_011535204.1:c.10054C>T	XP_011533506.1:p.Arg3352Ter
NM_000059.4:c.10150C>T MANE Select	NP_000050.3:p.Arg3384Ter