Canonical Allele Identifier: CA025845

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 96874
• ClinVar RCV Id: RCV000082995 ; RCV000164349 ; RCV000471016 ; RCV000657681 ; RCV000508358
• dbSNP Id: rs431825371
• MyVariant Identifiers: chr13:g.32953536T>A (hg19) ; chr13:g.32379399T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379399T>A , CM000675.2:g.32379399T>A	GRCh38
NC_000013.10:g.32953536T>A , CM000675.1:g.32953536T>A	GRCh37
NC_000013.9:g.31851536T>A	NCBI36
NG_012772.3:g.68920T>A , LRG_293:g.68920T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8837T>A	ENSP00000434898.2:p.Leu2946Ter
ENST00000528762.2:c.*204T>A	ENSP00000433168.2:n.*204T>A
ENST00000530893.7:c.8468T>A	ENSP00000499438.2:p.Leu2823Ter
ENST00000665585.2:c.*399T>A	ENSP00000499570.2:n.*399T>A
ENST00000666593.2:c.8837T>A	ENSP00000499256.2:p.Leu2946Ter
ENST00000700202.2:c.8837T>A	ENSP00000514856.2:p.Leu2946Ter
ENST00000700202.1:c.1304T>A	ENSP00000514856.1:p.Leu435Ter
ENST00000700203.1:n.964T>A
ENST00000380152.8:c.8837T>A MANE Select	ENSP00000369497.3:p.Leu2946Ter
ENST00000544455.6:c.8837T>A	ENSP00000439902.1:p.Leu2946Ter
ENST00000614259.2:c.8845T>A	ENSP00000506251.1:n.8845T>A
ENST00000665585.1:c.1715T>A
ENST00000680887.1:c.8837T>A	ENSP00000505508.1:p.Leu2946Ter
ENST00000380152.7:c.8837T>A	ENSP00000369497.3:p.Leu2946Ter
ENST00000528762.1:c.399T>A	ENSP00000433168.1:n.399T>A
ENST00000544455.5:c.8837T>A	ENSP00000439902.1:p.Leu2946Ter
NM_000059.3:c.8837T>A , LRG_293t1:c.8837T>A	NP_000050.2:p.Leu2946Ter
XM_011535203.1:c.8837T>A	XP_011533505.1:p.Leu2946Ter
XM_011535204.1:c.8741T>A	XP_011533506.1:p.Leu2914Ter
XM_011535205.1:c.8755-351T>A	XP_011533507.1:n.8755-351T>A
NM_000059.4:c.8837T>A MANE Select	NP_000050.3:p.Leu2946Ter