Canonical Allele Identifier: CA026285

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38262
• ClinVar RCV Id: RCV000031845 ; RCV000045892 ; RCV000166251 ; RCV000167844 ; RCV000587179 ; RCV000735633 ; RCV001353590 ; RCV004532473
• dbSNP Id: rs80359241
• ExAC: 13:32972378 C / T
• gnomAD v2: 13-32972378-C-T
• gnomAD v3: 13-32398241-C-T
• gnomAD v4: 13-32398241-C-T
• MyVariant Identifiers: chr13:g.32972378C>T (hg19) ; chr13:g.32398241C>T (hg38)
• PubMed: PMID:10923033 ; PMID:21218378 ; PMID:25451944 ; PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398241C>T , CM000675.2:g.32398241C>T	GRCh38
NC_000013.10:g.32972378C>T , CM000675.1:g.32972378C>T	GRCh37
NC_000013.9:g.31870378C>T	NCBI36
NG_012772.3:g.87762C>T , LRG_293:g.87762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*251C>T	ENSP00000434898.2:n.*251C>T
ENST00000528762.2:c.*1095C>T	ENSP00000433168.2:n.*1095C>T
ENST00000530893.7:c.9359C>T	ENSP00000499438.2:p.Pro3120Leu
ENST00000665585.2:c.*1290C>T	ENSP00000499570.2:n.*1290C>T
ENST00000700202.2:c.9677C>T	ENSP00000514856.2:p.Pro3226Leu
ENST00000700202.1:c.2144C>T	ENSP00000514856.1:p.Pro715Leu
ENST00000700203.1:n.1855C>T
ENST00000380152.8:c.9728C>T MANE Select	ENSP00000369497.3:p.Pro3243Leu
ENST00000544455.6:c.9728C>T	ENSP00000439902.1:p.Pro3243Leu
ENST00000614259.2:c.9736C>T	ENSP00000506251.1:n.9736C>T
ENST00000680887.1:c.9728C>T	ENSP00000505508.1:p.Pro3243Leu
ENST00000380152.7:c.9728C>T	ENSP00000369497.3:p.Pro3243Leu
ENST00000470094.1:c.811C>T
ENST00000533776.1:n.316C>T
ENST00000544455.5:c.9728C>T	ENSP00000439902.1:p.Pro3243Leu
NM_000059.3:c.9728C>T , LRG_293t1:c.9728C>T	NP_000050.2:p.Pro3243Leu
XM_011535203.1:c.9728C>T	XP_011533505.1:p.Pro3243Leu
XM_011535204.1:c.9632C>T	XP_011533506.1:p.Pro3211Leu
NM_000059.4:c.9728C>T MANE Select	NP_000050.3:p.Pro3243Leu