Canonical Allele Identifier: CA247493376

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1044563
• ClinVar RCV Id: RCV001348824
• dbSNP Id: rs944308365
• MyVariant Identifiers: chr13:g.32953594T>A (hg19) ; chr13:g.32379457T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379457T>A , CM000675.2:g.32379457T>A	GRCh38
NC_000013.10:g.32953594T>A , CM000675.1:g.32953594T>A	GRCh37
NC_000013.9:g.31851594T>A	NCBI36
NG_012772.3:g.68978T>A , LRG_293:g.68978T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8895T>A	ENSP00000434898.2:p.Asp2965Glu
ENST00000528762.2:c.*262T>A	ENSP00000433168.2:n.*262T>A
ENST00000530893.7:c.8526T>A	ENSP00000499438.2:p.Asp2842Glu
ENST00000665585.2:c.*457T>A	ENSP00000499570.2:n.*457T>A
ENST00000666593.2:c.8895T>A	ENSP00000499256.2:p.Asp2965Glu
ENST00000700202.2:c.8895T>A	ENSP00000514856.2:p.Asp2965Glu
ENST00000700202.1:c.1362T>A	ENSP00000514856.1:p.Asp454Glu
ENST00000700203.1:n.1022T>A
ENST00000380152.8:c.8895T>A MANE Select	ENSP00000369497.3:p.Asp2965Glu
ENST00000544455.6:c.8895T>A	ENSP00000439902.1:p.Asp2965Glu
ENST00000614259.2:c.8903T>A	ENSP00000506251.1:n.8903T>A
ENST00000665585.1:c.1773T>A
ENST00000680887.1:c.8895T>A	ENSP00000505508.1:p.Asp2965Glu
ENST00000380152.7:c.8895T>A	ENSP00000369497.3:p.Asp2965Glu
ENST00000528762.1:c.457T>A	ENSP00000433168.1:n.457T>A
ENST00000544455.5:c.8895T>A	ENSP00000439902.1:p.Asp2965Glu
NM_000059.3:c.8895T>A , LRG_293t1:c.8895T>A	NP_000050.2:p.Asp2965Glu
XM_011535203.1:c.8895T>A	XP_011533505.1:p.Asp2965Glu
XM_011535204.1:c.8799T>A	XP_011533506.1:p.Asp2933Glu
XM_011535205.1:c.8755-293T>A	XP_011533507.1:n.8755-293T>A
NM_000059.4:c.8895T>A MANE Select	NP_000050.3:p.Asp2965Glu