Canonical Allele Identifier: CA350207

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 221089
• ClinVar RCV Id: RCV000206136 ; RCV000442780 ; RCV000773224
• dbSNP Id: rs778147500
• gnomAD v4: 13-32398684-A-G
• MyVariant Identifiers: chr13:g.32972821A>G (hg19) ; chr13:g.32398684A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398684A>G , CM000675.2:g.32398684A>G	GRCh38
NC_000013.10:g.32972821A>G , CM000675.1:g.32972821A>G	GRCh37
NC_000013.9:g.31870821A>G	NCBI36
NG_012772.3:g.88205A>G , LRG_293:g.88205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*694A>G	ENSP00000434898.2:n.*694A>G
ENST00000528762.2:c.*1538A>G	ENSP00000433168.2:n.*1538A>G
ENST00000530893.7:c.9802A>G	ENSP00000499438.2:p.Ile3268Val
ENST00000665585.2:c.*1733A>G	ENSP00000499570.2:n.*1733A>G
ENST00000700202.2:c.10120A>G	ENSP00000514856.2:p.Ile3374Val
ENST00000700202.1:c.2587A>G	ENSP00000514856.1:p.Ile863Val
ENST00000700203.1:n.2298A>G
ENST00000380152.8:c.10171A>G MANE Select	ENSP00000369497.3:p.Ile3391Val
ENST00000544455.6:c.10171A>G	ENSP00000439902.1:p.Ile3391Val
ENST00000614259.2:c.10179A>G	ENSP00000506251.1:n.10179A>G
ENST00000680887.1:c.10171A>G	ENSP00000505508.1:p.Ile3391Val
ENST00000380152.7:c.10171A>G	ENSP00000369497.3:p.Ile3391Val
ENST00000544455.5:c.10171A>G	ENSP00000439902.1:p.Ile3391Val
NM_000059.3:c.10171A>G , LRG_293t1:c.10171A>G	NP_000050.2:p.Ile3391Val
XM_011535203.1:c.10171A>G	XP_011533505.1:p.Ile3391Val
XM_011535204.1:c.10075A>G	XP_011533506.1:p.Ile3359Val
NM_000059.4:c.10171A>G MANE Select	NP_000050.3:p.Ile3391Val