Canonical Allele Identifier: CA16619799

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 422440
• ClinVar RCV Id: RCV000478378
• dbSNP Id: rs1060502416
• MyVariant Identifiers: chr13:g.32972582C>G (hg19) ; chr13:g.32398445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398445C>G , CM000675.2:g.32398445C>G	GRCh38
NC_000013.10:g.32972582C>G , CM000675.1:g.32972582C>G	GRCh37
NC_000013.9:g.31870582C>G	NCBI36
NG_012772.3:g.87966C>G , LRG_293:g.87966C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*455C>G	ENSP00000434898.2:n.*455C>G
ENST00000528762.2:c.*1299C>G	ENSP00000433168.2:n.*1299C>G
ENST00000530893.7:c.9563C>G	ENSP00000499438.2:p.Pro3188Arg
ENST00000665585.2:c.*1494C>G	ENSP00000499570.2:n.*1494C>G
ENST00000700202.2:c.9881C>G	ENSP00000514856.2:p.Pro3294Arg
ENST00000700202.1:c.2348C>G	ENSP00000514856.1:p.Pro783Arg
ENST00000700203.1:n.2059C>G
ENST00000380152.8:c.9932C>G MANE Select	ENSP00000369497.3:p.Pro3311Arg
ENST00000544455.6:c.9932C>G	ENSP00000439902.1:p.Pro3311Arg
ENST00000614259.2:c.9940C>G	ENSP00000506251.1:n.9940C>G
ENST00000680887.1:c.9932C>G	ENSP00000505508.1:p.Pro3311Arg
ENST00000380152.7:c.9932C>G	ENSP00000369497.3:p.Pro3311Arg
ENST00000533776.1:n.520C>G
ENST00000544455.5:c.9932C>G	ENSP00000439902.1:p.Pro3311Arg
NM_000059.3:c.9932C>G , LRG_293t1:c.9932C>G	NP_000050.2:p.Pro3311Arg
XM_011535203.1:c.9932C>G	XP_011533505.1:p.Pro3311Arg
XM_011535204.1:c.9836C>G	XP_011533506.1:p.Pro3279Arg
NM_000059.4:c.9932C>G MANE Select	NP_000050.3:p.Pro3311Arg