Canonical Allele Identifier: CA387758445

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1060796
• ClinVar RCV Id: RCV001370272 ; RCV004037465
• dbSNP Id: rs151275325
• MyVariant Identifiers: chr13:g.32954246C>G (hg19) ; chr13:g.32380109C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380109C>G , CM000675.2:g.32380109C>G	GRCh38
NC_000013.10:g.32954246C>G , CM000675.1:g.32954246C>G	GRCh37
NC_000013.9:g.31852246C>G	NCBI36
NG_012772.3:g.69630C>G , LRG_293:g.69630C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9220C>G	ENSP00000434898.2:p.Leu3074Val
ENST00000528762.2:c.*587C>G	ENSP00000433168.2:n.*587C>G
ENST00000530893.7:c.8851C>G	ENSP00000499438.2:p.Leu2951Val
ENST00000665585.2:c.*782C>G	ENSP00000499570.2:n.*782C>G
ENST00000666593.2:c.9220C>G	ENSP00000499256.2:p.Leu3074Val
ENST00000700202.2:c.9169C>G	ENSP00000514856.2:p.Leu3057Val
ENST00000700202.1:c.1636C>G	ENSP00000514856.1:p.Leu546Val
ENST00000700203.1:n.1347C>G
ENST00000380152.8:c.9220C>G MANE Select	ENSP00000369497.3:p.Leu3074Val
ENST00000544455.6:c.9220C>G	ENSP00000439902.1:p.Leu3074Val
ENST00000614259.2:c.9228C>G	ENSP00000506251.1:n.9228C>G
ENST00000665585.1:c.2098C>G
ENST00000666593.1:c.103C>G	ENSP00000499256.1:p.Leu35Val
ENST00000680887.1:c.9220C>G	ENSP00000505508.1:p.Leu3074Val
ENST00000380152.7:c.9220C>G	ENSP00000369497.3:p.Leu3074Val
ENST00000470094.1:c.177C>G
ENST00000544455.5:c.9220C>G	ENSP00000439902.1:p.Leu3074Val
NM_000059.3:c.9220C>G , LRG_293t1:c.9220C>G	NP_000050.2:p.Leu3074Val
XM_011535203.1:c.9220C>G	XP_011533505.1:p.Leu3074Val
XM_011535204.1:c.9124C>G	XP_011533506.1:p.Leu3042Val
NM_000059.4:c.9220C>G MANE Select	NP_000050.3:p.Leu3074Val