Canonical Allele Identifier: CA026266

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52890
• ClinVar RCV Id: RCV001175465 ; RCV003415796 ; RCV003473437
• dbSNP Id: rs80359237
• ExAC: 13:32972327 A / G
• gnomAD v2: 13-32972327-A-G
• gnomAD v3: 13-32398190-A-G
• gnomAD v4: 13-32398190-A-G
• MyVariant Identifiers: chr13:g.32972327A>G (hg19) ; chr13:g.32398190A>G (hg38)
• PubMed: PMID:10923033 ; PMID:22034289 ; PMID:25348012

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398190A>G , CM000675.2:g.32398190A>G	GRCh38
NC_000013.10:g.32972327A>G , CM000675.1:g.32972327A>G	GRCh37
NC_000013.9:g.31870327A>G	NCBI36
NG_012772.3:g.87711A>G , LRG_293:g.87711A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*200A>G	ENSP00000434898.2:n.*200A>G
ENST00000528762.2:c.*1044A>G	ENSP00000433168.2:n.*1044A>G
ENST00000530893.7:c.9308A>G	ENSP00000499438.2:p.Tyr3103Cys
ENST00000665585.2:c.*1239A>G	ENSP00000499570.2:n.*1239A>G
ENST00000700202.2:c.9626A>G	ENSP00000514856.2:p.Tyr3209Cys
ENST00000700202.1:c.2093A>G	ENSP00000514856.1:p.Tyr698Cys
ENST00000700203.1:n.1804A>G
ENST00000380152.8:c.9677A>G MANE Select	ENSP00000369497.3:p.Tyr3226Cys
ENST00000544455.6:c.9677A>G	ENSP00000439902.1:p.Tyr3226Cys
ENST00000614259.2:c.9685A>G	ENSP00000506251.1:n.9685A>G
ENST00000665585.1:c.2555A>G
ENST00000680887.1:c.9677A>G	ENSP00000505508.1:p.Tyr3226Cys
ENST00000380152.7:c.9677A>G	ENSP00000369497.3:p.Tyr3226Cys
ENST00000470094.1:c.760A>G
ENST00000533776.1:n.265A>G
ENST00000544455.5:c.9677A>G	ENSP00000439902.1:p.Tyr3226Cys
NM_000059.3:c.9677A>G , LRG_293t1:c.9677A>G	NP_000050.2:p.Tyr3226Cys
XM_011535203.1:c.9677A>G	XP_011533505.1:p.Tyr3226Cys
XM_011535204.1:c.9581A>G	XP_011533506.1:p.Tyr3194Cys
NM_000059.4:c.9677A>G MANE Select	NP_000050.3:p.Tyr3226Cys