Canonical Allele Identifier: CA10579665

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 232588
• ClinVar RCV Id: RCV000220000 ; RCV000759628 ; RCV000791836 ; RCV003991026
• dbSNP Id: rs431825333
• gnomAD v4: 13-32340062-A-G
• MyVariant Identifiers: chr13:g.32914199A>G (hg19) ; chr13:g.32340062A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340062A>G , CM000675.2:g.32340062A>G	GRCh38
NC_000013.10:g.32914199A>G , CM000675.1:g.32914199A>G	GRCh37
NC_000013.9:g.31812199A>G	NCBI36
NG_012772.3:g.29583A>G , LRG_293:g.29583A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5707A>G	ENSP00000434898.2:p.Ile1903Val
ENST00000528762.2:c.5707A>G	ENSP00000433168.2:p.Ile1903Val
ENST00000530893.7:c.5338A>G	ENSP00000499438.2:p.Ile1780Val
ENST00000665585.2:c.5707A>G	ENSP00000499570.2:p.Ile1903Val
ENST00000666593.2:c.5707A>G	ENSP00000499256.2:p.Ile1903Val
ENST00000700202.2:c.5707A>G	ENSP00000514856.2:p.Ile1903Val
ENST00000380152.8:c.5707A>G MANE Select	ENSP00000369497.3:p.Ile1903Val
ENST00000544455.6:c.5707A>G	ENSP00000439902.1:p.Ile1903Val
ENST00000614259.2:c.5707A>G	ENSP00000506251.1:p.Ile1903Val
ENST00000680887.1:c.5707A>G	ENSP00000505508.1:p.Ile1903Val
ENST00000380152.7:c.5707A>G	ENSP00000369497.3:p.Ile1903Val
ENST00000544455.5:c.5707A>G	ENSP00000439902.1:p.Ile1903Val
ENST00000614259.1:n.5707A>G
NM_000059.3:c.5707A>G , LRG_293t1:c.5707A>G	NP_000050.2:p.Ile1903Val
XM_011535203.1:c.5707A>G	XP_011533505.1:p.Ile1903Val
XM_011535204.1:c.5707A>G	XP_011533506.1:p.Ile1903Val
XM_011535205.1:c.5707A>G	XP_011533507.1:p.Ile1903Val
NM_000059.4:c.5707A>G MANE Select	NP_000050.3:p.Ile1903Val