Canonical Allele Identifier: CA010562

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182306
• ClinVar RCV Id: RCV000160263 ; RCV000230091 ; RCV000771295 ; RCV003492647 ; RCV003477575
• dbSNP Id: rs730881600
• gnomAD v4: 13-32398763-A-G
• MyVariant Identifiers: chr13:g.32972900A>G (hg19) ; chr13:g.32398763A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398763A>G , CM000675.2:g.32398763A>G	GRCh38
NC_000013.10:g.32972900A>G , CM000675.1:g.32972900A>G	GRCh37
NC_000013.9:g.31870900A>G	NCBI36
NG_012772.3:g.88284A>G , LRG_293:g.88284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*773A>G	ENSP00000434898.2:n.*773A>G
ENST00000528762.2:c.*1617A>G	ENSP00000433168.2:n.*1617A>G
ENST00000530893.7:c.9881A>G	ENSP00000499438.2:p.Tyr3294Cys
ENST00000665585.2:c.*1812A>G	ENSP00000499570.2:n.*1812A>G
ENST00000700202.2:c.10199A>G	ENSP00000514856.2:p.Tyr3400Cys
ENST00000700202.1:c.2666A>G	ENSP00000514856.1:p.Tyr889Cys
ENST00000700203.1:n.2377A>G
ENST00000380152.8:c.10250A>G MANE Select	ENSP00000369497.3:p.Tyr3417Cys
ENST00000544455.6:c.10250A>G	ENSP00000439902.1:p.Tyr3417Cys
ENST00000614259.2:c.10258A>G	ENSP00000506251.1:n.10258A>G
ENST00000680887.1:c.10250A>G	ENSP00000505508.1:p.Tyr3417Cys
ENST00000380152.7:c.10250A>G	ENSP00000369497.3:p.Tyr3417Cys
ENST00000544455.5:c.10250A>G	ENSP00000439902.1:p.Tyr3417Cys
NM_000059.3:c.10250A>G , LRG_293t1:c.10250A>G	NP_000050.2:p.Tyr3417Cys
XM_011535203.1:c.10250A>G	XP_011533505.1:p.Tyr3417Cys
XM_011535204.1:c.10154A>G	XP_011533506.1:p.Tyr3385Cys
NM_000059.4:c.10250A>G MANE Select	NP_000050.3:p.Tyr3417Cys