Canonical Allele Identifier: CA387758437

Gene: BRCA2

Linked Data

• dbSNP Id: rs151275325
• MyVariant Identifiers: chr13:g.32954246C>A (hg19) ; chr13:g.32380109C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9220C>A	ENSP00000434898.2:p.Leu3074Ile
ENST00000528762.2:c.*587C>A	ENSP00000433168.2:n.*587C>A
ENST00000530893.7:c.8851C>A	ENSP00000499438.2:p.Leu2951Ile
ENST00000665585.2:c.*782C>A	ENSP00000499570.2:n.*782C>A
ENST00000666593.2:c.9220C>A	ENSP00000499256.2:p.Leu3074Ile
ENST00000700202.2:c.9169C>A	ENSP00000514856.2:p.Leu3057Ile
ENST00000700202.1:c.1636C>A	ENSP00000514856.1:p.Leu546Ile
ENST00000700203.1:n.1347C>A
ENST00000380152.8:c.9220C>A MANE Select	ENSP00000369497.3:p.Leu3074Ile
ENST00000544455.6:c.9220C>A	ENSP00000439902.1:p.Leu3074Ile
ENST00000614259.2:c.9228C>A	ENSP00000506251.1:n.9228C>A
ENST00000665585.1:c.2098C>A
ENST00000666593.1:c.103C>A	ENSP00000499256.1:p.Leu35Ile
ENST00000680887.1:c.9220C>A	ENSP00000505508.1:p.Leu3074Ile
ENST00000380152.7:c.9220C>A	ENSP00000369497.3:p.Leu3074Ile
ENST00000470094.1:c.177C>A
ENST00000544455.5:c.9220C>A	ENSP00000439902.1:p.Leu3074Ile
NM_000059.3:c.9220C>A , LRG_293t1:c.9220C>A	NP_000050.2:p.Leu3074Ile
XM_011535203.1:c.9220C>A	XP_011533505.1:p.Leu3074Ile
XM_011535204.1:c.9124C>A	XP_011533506.1:p.Leu3042Ile
NM_000059.4:c.9220C>A MANE Select	NP_000050.3:p.Leu3074Ile