Canonical Allele Identifier: CA6941476

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 427465
• ClinVar RCV Id: RCV000495263 ; RCV000938121 ; RCV001800706 ; RCV002329171
• dbSNP Id: rs747281144
• ExAC: 13:32972802 A / T
• gnomAD v2: 13-32972802-A-T
• gnomAD v4: 13-32398665-A-T
• MyVariant Identifiers: chr13:g.32972802A>T (hg19) ; chr13:g.32398665A>T (hg38)

Genomic Alleles

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

Transcript Alleles

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