Canonical Allele Identifier: CA16606836

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 381936
• ClinVar RCV Id: RCV003298433
• dbSNP Id: rs747281144
• gnomAD v4: 13-32398665-A-G
• MyVariant Identifiers: chr13:g.32972802A>G (hg19) ; chr13:g.32398665A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398665A>G , CM000675.2:g.32398665A>G	GRCh38
NC_000013.10:g.32972802A>G , CM000675.1:g.32972802A>G	GRCh37
NC_000013.9:g.31870802A>G	NCBI36
NG_012772.3:g.88186A>G , LRG_293:g.88186A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*675A>G	ENSP00000434898.2:n.*675A>G
ENST00000528762.2:c.*1519A>G	ENSP00000433168.2:n.*1519A>G
ENST00000530893.7:c.9783A>G	ENSP00000499438.2:p.Arg3261=
ENST00000665585.2:c.*1714A>G	ENSP00000499570.2:n.*1714A>G
ENST00000700202.2:c.10101A>G	ENSP00000514856.2:p.Arg3367=
ENST00000700202.1:c.2568A>G	ENSP00000514856.1:p.Arg856=
ENST00000700203.1:n.2279A>G
ENST00000380152.8:c.10152A>G MANE Select	ENSP00000369497.3:p.Arg3384=
ENST00000544455.6:c.10152A>G	ENSP00000439902.1:p.Arg3384=
ENST00000614259.2:c.10160A>G	ENSP00000506251.1:n.10160A>G
ENST00000680887.1:c.10152A>G	ENSP00000505508.1:p.Arg3384=
ENST00000380152.7:c.10152A>G	ENSP00000369497.3:p.Arg3384=
ENST00000544455.5:c.10152A>G	ENSP00000439902.1:p.Arg3384=
NM_000059.3:c.10152A>G , LRG_293t1:c.10152A>G	NP_000050.2:p.Arg3384=
XM_011535203.1:c.10152A>G	XP_011533505.1:p.Arg3384=
XM_011535204.1:c.10056A>G	XP_011533506.1:p.Arg3352=
NM_000059.4:c.10152A>G MANE Select	NP_000050.3:p.Arg3384=