Canonical Allele Identifier: CA247508918

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1045129
• ClinVar RCV Id: RCV001357379 ; RCV001349483 ; RCV001800986 ; RCV002377486
• dbSNP Id: rs980577419
• gnomAD v4: 13-32398220-A-G
• MyVariant Identifiers: chr13:g.32972357A>G (hg19) ; chr13:g.32398220A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398220A>G , CM000675.2:g.32398220A>G	GRCh38
NC_000013.10:g.32972357A>G , CM000675.1:g.32972357A>G	GRCh37
NC_000013.9:g.31870357A>G	NCBI36
NG_012772.3:g.87741A>G , LRG_293:g.87741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*230A>G	ENSP00000434898.2:n.*230A>G
ENST00000528762.2:c.*1074A>G	ENSP00000433168.2:n.*1074A>G
ENST00000530893.7:c.9338A>G	ENSP00000499438.2:p.Lys3113Arg
ENST00000665585.2:c.*1269A>G	ENSP00000499570.2:n.*1269A>G
ENST00000700202.2:c.9656A>G	ENSP00000514856.2:p.Lys3219Arg
ENST00000700202.1:c.2123A>G	ENSP00000514856.1:p.Lys708Arg
ENST00000700203.1:n.1834A>G
ENST00000380152.8:c.9707A>G MANE Select	ENSP00000369497.3:p.Lys3236Arg
ENST00000544455.6:c.9707A>G	ENSP00000439902.1:p.Lys3236Arg
ENST00000614259.2:c.9715A>G	ENSP00000506251.1:n.9715A>G
ENST00000665585.1:c.2585A>G
ENST00000680887.1:c.9707A>G	ENSP00000505508.1:p.Lys3236Arg
ENST00000380152.7:c.9707A>G	ENSP00000369497.3:p.Lys3236Arg
ENST00000470094.1:c.790A>G
ENST00000533776.1:n.295A>G
ENST00000544455.5:c.9707A>G	ENSP00000439902.1:p.Lys3236Arg
NM_000059.3:c.9707A>G , LRG_293t1:c.9707A>G	NP_000050.2:p.Lys3236Arg
XM_011535203.1:c.9707A>G	XP_011533505.1:p.Lys3236Arg
XM_011535204.1:c.9611A>G	XP_011533506.1:p.Lys3204Arg
NM_000059.4:c.9707A>G MANE Select	NP_000050.3:p.Lys3236Arg