Canonical Allele Identifier: CA387758480

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2565960
• ClinVar RCV Id: RCV003293401
• MyVariant Identifiers: chr13:g.32954249A>G (hg19) ; chr13:g.32380112A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380112A>G , CM000675.2:g.32380112A>G	GRCh38
NC_000013.10:g.32954249A>G , CM000675.1:g.32954249A>G	GRCh37
NC_000013.9:g.31852249A>G	NCBI36
NG_012772.3:g.69633A>G , LRG_293:g.69633A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9223A>G	ENSP00000434898.2:p.Ile3075Val
ENST00000528762.2:c.*590A>G	ENSP00000433168.2:n.*590A>G
ENST00000530893.7:c.8854A>G	ENSP00000499438.2:p.Ile2952Val
ENST00000665585.2:c.*785A>G	ENSP00000499570.2:n.*785A>G
ENST00000666593.2:c.9223A>G	ENSP00000499256.2:p.Ile3075Val
ENST00000700202.2:c.9172A>G	ENSP00000514856.2:p.Ile3058Val
ENST00000700202.1:c.1639A>G	ENSP00000514856.1:p.Ile547Val
ENST00000700203.1:n.1350A>G
ENST00000380152.8:c.9223A>G MANE Select	ENSP00000369497.3:p.Ile3075Val
ENST00000544455.6:c.9223A>G	ENSP00000439902.1:p.Ile3075Val
ENST00000614259.2:c.9231A>G	ENSP00000506251.1:n.9231A>G
ENST00000665585.1:c.2101A>G
ENST00000666593.1:c.106A>G	ENSP00000499256.1:p.Ile36Val
ENST00000680887.1:c.9223A>G	ENSP00000505508.1:p.Ile3075Val
ENST00000380152.7:c.9223A>G	ENSP00000369497.3:p.Ile3075Val
ENST00000470094.1:c.180A>G
ENST00000544455.5:c.9223A>G	ENSP00000439902.1:p.Ile3075Val
NM_000059.3:c.9223A>G , LRG_293t1:c.9223A>G	NP_000050.2:p.Ile3075Val
XM_011535203.1:c.9223A>G	XP_011533505.1:p.Ile3075Val
XM_011535204.1:c.9127A>G	XP_011533506.1:p.Ile3043Val
NM_000059.4:c.9223A>G MANE Select	NP_000050.3:p.Ile3075Val