Canonical Allele Identifier: CA026338

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52921
• ClinVar RCV Id: RCV000112826 ; RCV000165864 ; RCV000781148 ; RCV001364239 ; RCV003149697
• dbSNP Id: rs80359255
• gnomAD v4: 13-32398449-A-G
• MyVariant Identifiers: chr13:g.32972586A>G (hg19) ; chr13:g.32398449A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398449A>G , CM000675.2:g.32398449A>G	GRCh38
NC_000013.10:g.32972586A>G , CM000675.1:g.32972586A>G	GRCh37
NC_000013.9:g.31870586A>G	NCBI36
NG_012772.3:g.87970A>G , LRG_293:g.87970A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*459A>G	ENSP00000434898.2:n.*459A>G
ENST00000528762.2:c.*1303A>G	ENSP00000433168.2:n.*1303A>G
ENST00000530893.7:c.9567A>G	ENSP00000499438.2:p.Ile3189Met
ENST00000665585.2:c.*1498A>G	ENSP00000499570.2:n.*1498A>G
ENST00000700202.2:c.9885A>G	ENSP00000514856.2:p.Ile3295Met
ENST00000700202.1:c.2352A>G	ENSP00000514856.1:p.Ile784Met
ENST00000700203.1:n.2063A>G
ENST00000380152.8:c.9936A>G MANE Select	ENSP00000369497.3:p.Ile3312Met
ENST00000544455.6:c.9936A>G	ENSP00000439902.1:p.Ile3312Met
ENST00000614259.2:c.9944A>G	ENSP00000506251.1:n.9944A>G
ENST00000680887.1:c.9936A>G	ENSP00000505508.1:p.Ile3312Met
ENST00000380152.7:c.9936A>G	ENSP00000369497.3:p.Ile3312Met
ENST00000544455.5:c.9936A>G	ENSP00000439902.1:p.Ile3312Met
NM_000059.3:c.9936A>G , LRG_293t1:c.9936A>G	NP_000050.2:p.Ile3312Met
XM_011535203.1:c.9936A>G	XP_011533505.1:p.Ile3312Met
XM_011535204.1:c.9840A>G	XP_011533506.1:p.Ile3280Met
NM_000059.4:c.9936A>G MANE Select	NP_000050.3:p.Ile3312Met