Canonical Allele Identifier: CA026176

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 142588
• ClinVar RCV Id: RCV000131791 ; RCV000483383 ; RCV000657154 ; RCV001110139 ; RCV001082356 ; RCV001110138
• dbSNP Id: rs587782568
• ExAC: 13:32969062 A / G
• gnomAD v2: 13-32969062-A-G
• gnomAD v3: 13-32394925-A-G
• gnomAD v4: 13-32394925-A-G
• MyVariant Identifiers: chr13:g.32969062A>G (hg19) ; chr13:g.32394925A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394925A>G , CM000675.2:g.32394925A>G	GRCh38
NC_000013.10:g.32969062A>G , CM000675.1:g.32969062A>G	GRCh37
NC_000013.9:g.31867062A>G	NCBI36
NG_012772.3:g.84446A>G , LRG_293:g.84446A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9493A>G	ENSP00000434898.2:p.Thr3165Ala
ENST00000528762.2:c.*860A>G	ENSP00000433168.2:n.*860A>G
ENST00000530893.7:c.9124A>G	ENSP00000499438.2:p.Thr3042Ala
ENST00000665585.2:c.*1055A>G	ENSP00000499570.2:n.*1055A>G
ENST00000666593.2:c.*338A>G	ENSP00000499256.2:n.*338A>G
ENST00000700202.2:c.9442A>G	ENSP00000514856.2:p.Thr3148Ala
ENST00000700202.1:c.1909A>G	ENSP00000514856.1:p.Thr637Ala
ENST00000700203.1:n.1620A>G
ENST00000380152.8:c.9493A>G MANE Select	ENSP00000369497.3:p.Thr3165Ala
ENST00000544455.6:c.9493A>G	ENSP00000439902.1:p.Thr3165Ala
ENST00000614259.2:c.9501A>G	ENSP00000506251.1:n.9501A>G
ENST00000665585.1:c.2371A>G
ENST00000666593.1:c.515A>G	ENSP00000499256.1:n.515A>G
ENST00000680887.1:c.9493A>G	ENSP00000505508.1:p.Thr3165Ala
ENST00000380152.7:c.9493A>G	ENSP00000369497.3:p.Thr3165Ala
ENST00000470094.1:c.450A>G
ENST00000544455.5:c.9493A>G	ENSP00000439902.1:p.Thr3165Ala
NM_000059.3:c.9493A>G , LRG_293t1:c.9493A>G	NP_000050.2:p.Thr3165Ala
XM_011535203.1:c.9493A>G	XP_011533505.1:p.Thr3165Ala
XM_011535204.1:c.9397A>G	XP_011533506.1:p.Thr3133Ala
NM_000059.4:c.9493A>G MANE Select	NP_000050.3:p.Thr3165Ala