Canonical Allele Identifier: CA387766409

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 495523
• ClinVar RCV Id: RCV000588196 ; RCV000704666 ; RCV003321691 ; RCV002384281
• dbSNP Id: rs80359246
• MyVariant Identifiers: chr13:g.32972489C>G (hg19) ; chr13:g.32398352C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398352C>G , CM000675.2:g.32398352C>G	GRCh38
NC_000013.10:g.32972489C>G , CM000675.1:g.32972489C>G	GRCh37
NC_000013.9:g.31870489C>G	NCBI36
NG_012772.3:g.87873C>G , LRG_293:g.87873C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*362C>G	ENSP00000434898.2:n.*362C>G
ENST00000528762.2:c.*1206C>G	ENSP00000433168.2:n.*1206C>G
ENST00000530893.7:c.9470C>G	ENSP00000499438.2:p.Pro3157Arg
ENST00000665585.2:c.*1401C>G	ENSP00000499570.2:n.*1401C>G
ENST00000700202.2:c.9788C>G	ENSP00000514856.2:p.Pro3263Arg
ENST00000700202.1:c.2255C>G	ENSP00000514856.1:p.Pro752Arg
ENST00000700203.1:n.1966C>G
ENST00000380152.8:c.9839C>G MANE Select	ENSP00000369497.3:p.Pro3280Arg
ENST00000544455.6:c.9839C>G	ENSP00000439902.1:p.Pro3280Arg
ENST00000614259.2:c.9847C>G	ENSP00000506251.1:n.9847C>G
ENST00000680887.1:c.9839C>G	ENSP00000505508.1:p.Pro3280Arg
ENST00000380152.7:c.9839C>G	ENSP00000369497.3:p.Pro3280Arg
ENST00000533776.1:n.427C>G
ENST00000544455.5:c.9839C>G	ENSP00000439902.1:p.Pro3280Arg
NM_000059.3:c.9839C>G , LRG_293t1:c.9839C>G	NP_000050.2:p.Pro3280Arg
XM_011535203.1:c.9839C>G	XP_011533505.1:p.Pro3280Arg
XM_011535204.1:c.9743C>G	XP_011533506.1:p.Pro3248Arg
NM_000059.4:c.9839C>G MANE Select	NP_000050.3:p.Pro3280Arg