Canonical Allele Identifier: CA387760983

Gene: BRCA2

Linked Data

• dbSNP Id: rs1593199703
• MyVariant Identifiers: chr13:g.32968894C>A (hg19) ; chr13:g.32394757C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394757C>A , CM000675.2:g.32394757C>A	GRCh38
NC_000013.10:g.32968894C>A , CM000675.1:g.32968894C>A	GRCh37
NC_000013.9:g.31866894C>A	NCBI36
NG_012772.3:g.84278C>A , LRG_293:g.84278C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9325C>A	ENSP00000434898.2:p.Leu3109Ile
ENST00000528762.2:c.*692C>A	ENSP00000433168.2:n.*692C>A
ENST00000530893.7:c.8956C>A	ENSP00000499438.2:p.Leu2986Ile
ENST00000665585.2:c.*887C>A	ENSP00000499570.2:n.*887C>A
ENST00000666593.2:c.*170C>A	ENSP00000499256.2:n.*170C>A
ENST00000700202.2:c.9274C>A	ENSP00000514856.2:p.Leu3092Ile
ENST00000700202.1:c.1741C>A	ENSP00000514856.1:p.Leu581Ile
ENST00000700203.1:n.1452C>A
ENST00000380152.8:c.9325C>A MANE Select	ENSP00000369497.3:p.Leu3109Ile
ENST00000544455.6:c.9325C>A	ENSP00000439902.1:p.Leu3109Ile
ENST00000614259.2:c.9333C>A	ENSP00000506251.1:n.9333C>A
ENST00000665585.1:c.2203C>A
ENST00000666593.1:c.347C>A	ENSP00000499256.1:n.347C>A
ENST00000680887.1:c.9325C>A	ENSP00000505508.1:p.Leu3109Ile
ENST00000380152.7:c.9325C>A	ENSP00000369497.3:p.Leu3109Ile
ENST00000470094.1:c.282C>A
ENST00000544455.5:c.9325C>A	ENSP00000439902.1:p.Leu3109Ile
NM_000059.3:c.9325C>A , LRG_293t1:c.9325C>A	NP_000050.2:p.Leu3109Ile
XM_011535203.1:c.9325C>A	XP_011533505.1:p.Leu3109Ile
XM_011535204.1:c.9229C>A	XP_011533506.1:p.Leu3077Ile
NM_000059.4:c.9325C>A MANE Select	NP_000050.3:p.Leu3109Ile