Canonical Allele Identifier: CA10577502

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 234526
• ClinVar RCV Id: RCV000217053 ; RCV001247257
• dbSNP Id: rs876661063
• MyVariant Identifiers: chr13:g.32972587A>G (hg19) ; chr13:g.32398450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398450A>G , CM000675.2:g.32398450A>G	GRCh38
NC_000013.10:g.32972587A>G , CM000675.1:g.32972587A>G	GRCh37
NC_000013.9:g.31870587A>G	NCBI36
NG_012772.3:g.87971A>G , LRG_293:g.87971A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*460A>G	ENSP00000434898.2:n.*460A>G
ENST00000528762.2:c.*1304A>G	ENSP00000433168.2:n.*1304A>G
ENST00000530893.7:c.9568A>G	ENSP00000499438.2:p.Lys3190Glu
ENST00000665585.2:c.*1499A>G	ENSP00000499570.2:n.*1499A>G
ENST00000700202.2:c.9886A>G	ENSP00000514856.2:p.Lys3296Glu
ENST00000700202.1:c.2353A>G	ENSP00000514856.1:p.Lys785Glu
ENST00000700203.1:n.2064A>G
ENST00000380152.8:c.9937A>G MANE Select	ENSP00000369497.3:p.Lys3313Glu
ENST00000544455.6:c.9937A>G	ENSP00000439902.1:p.Lys3313Glu
ENST00000614259.2:c.9945A>G	ENSP00000506251.1:n.9945A>G
ENST00000680887.1:c.9937A>G	ENSP00000505508.1:p.Lys3313Glu
ENST00000380152.7:c.9937A>G	ENSP00000369497.3:p.Lys3313Glu
ENST00000544455.5:c.9937A>G	ENSP00000439902.1:p.Lys3313Glu
NM_000059.3:c.9937A>G , LRG_293t1:c.9937A>G	NP_000050.2:p.Lys3313Glu
XM_011535203.1:c.9937A>G	XP_011533505.1:p.Lys3313Glu
XM_011535204.1:c.9841A>G	XP_011533506.1:p.Lys3281Glu
NM_000059.4:c.9937A>G MANE Select	NP_000050.3:p.Lys3313Glu