Canonical Allele Identifier: CA387766356

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 485424
• ClinVar RCV Id: RCV000569628 ; RCV003645051
• dbSNP Id: rs768039420
• MyVariant Identifiers: chr13:g.32972483C>G (hg19) ; chr13:g.32398346C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398346C>G , CM000675.2:g.32398346C>G	GRCh38
NC_000013.10:g.32972483C>G , CM000675.1:g.32972483C>G	GRCh37
NC_000013.9:g.31870483C>G	NCBI36
NG_012772.3:g.87867C>G , LRG_293:g.87867C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*356C>G	ENSP00000434898.2:n.*356C>G
ENST00000528762.2:c.*1200C>G	ENSP00000433168.2:n.*1200C>G
ENST00000530893.7:c.9464C>G	ENSP00000499438.2:p.Pro3155Arg
ENST00000665585.2:c.*1395C>G	ENSP00000499570.2:n.*1395C>G
ENST00000700202.2:c.9782C>G	ENSP00000514856.2:p.Pro3261Arg
ENST00000700202.1:c.2249C>G	ENSP00000514856.1:p.Pro750Arg
ENST00000700203.1:n.1960C>G
ENST00000380152.8:c.9833C>G MANE Select	ENSP00000369497.3:p.Pro3278Arg
ENST00000544455.6:c.9833C>G	ENSP00000439902.1:p.Pro3278Arg
ENST00000614259.2:c.9841C>G	ENSP00000506251.1:n.9841C>G
ENST00000680887.1:c.9833C>G	ENSP00000505508.1:p.Pro3278Arg
ENST00000380152.7:c.9833C>G	ENSP00000369497.3:p.Pro3278Arg
ENST00000533776.1:n.421C>G
ENST00000544455.5:c.9833C>G	ENSP00000439902.1:p.Pro3278Arg
NM_000059.3:c.9833C>G , LRG_293t1:c.9833C>G	NP_000050.2:p.Pro3278Arg
XM_011535203.1:c.9833C>G	XP_011533505.1:p.Pro3278Arg
XM_011535204.1:c.9737C>G	XP_011533506.1:p.Pro3246Arg
NM_000059.4:c.9833C>G MANE Select	NP_000050.3:p.Pro3278Arg