Canonical Allele Identifier: CA483440052

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1301392
• ClinVar RCV Id: RCV001733421 ; RCV002073987 ; RCV002386510 ; RCV003478875
• dbSNP Id: rs1363146360
• gnomAD v2: 13-32972421-A-G
• gnomAD v4: 13-32398284-A-G
• MyVariant Identifiers: chr13:g.32972421A>G (hg19) ; chr13:g.32398284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398284A>G , CM000675.2:g.32398284A>G	GRCh38
NC_000013.10:g.32972421A>G , CM000675.1:g.32972421A>G	GRCh37
NC_000013.9:g.31870421A>G	NCBI36
NG_012772.3:g.87805A>G , LRG_293:g.87805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*294A>G	ENSP00000434898.2:n.*294A>G
ENST00000528762.2:c.*1138A>G	ENSP00000433168.2:n.*1138A>G
ENST00000530893.7:c.9402A>G	ENSP00000499438.2:p.Lys3134=
ENST00000665585.2:c.*1333A>G	ENSP00000499570.2:n.*1333A>G
ENST00000700202.2:c.9720A>G	ENSP00000514856.2:p.Lys3240=
ENST00000700202.1:c.2187A>G	ENSP00000514856.1:p.Lys729=
ENST00000700203.1:n.1898A>G
ENST00000380152.8:c.9771A>G MANE Select	ENSP00000369497.3:p.Lys3257=
ENST00000544455.6:c.9771A>G	ENSP00000439902.1:p.Lys3257=
ENST00000614259.2:c.9779A>G	ENSP00000506251.1:n.9779A>G
ENST00000680887.1:c.9771A>G	ENSP00000505508.1:p.Lys3257=
ENST00000380152.7:c.9771A>G	ENSP00000369497.3:p.Lys3257=
ENST00000533776.1:n.359A>G
ENST00000544455.5:c.9771A>G	ENSP00000439902.1:p.Lys3257=
NM_000059.3:c.9771A>G , LRG_293t1:c.9771A>G	NP_000050.2:p.Lys3257=
XM_011535203.1:c.9771A>G	XP_011533505.1:p.Lys3257=
XM_011535204.1:c.9675A>G	XP_011533506.1:p.Lys3225=
NM_000059.4:c.9771A>G MANE Select	NP_000050.3:p.Lys3257=