Canonical Allele Identifier: CA387761125

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394786G>A , CM000675.2:g.32394786G>A	GRCh38
NC_000013.10:g.32968923G>A , CM000675.1:g.32968923G>A	GRCh37
NC_000013.9:g.31866923G>A	NCBI36
NG_012772.3:g.84307G>A , LRG_293:g.84307G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9354G>A MANE Select	NP_000050.3:p.Met3118Ile
ENST00000380152.8:c.9354G>A MANE Select	ENSP00000369497.3:p.Met3118Ile
NM_000059.3:c.9354G>A , LRG_293t1:c.9354G>A	NP_000050.2:p.Met3118Ile
ENST00000380152.7:c.9354G>A	ENSP00000369497.3:p.Met3118Ile
ENST00000470094.1:c.311G>A
ENST00000470094.2:c.9354G>A	ENSP00000434898.2:p.Met3118Ile
ENST00000528762.2:c.*721G>A	ENSP00000433168.2:n.*721G>A
ENST00000530893.7:c.8985G>A	ENSP00000499438.2:p.Met2995Ile
ENST00000544455.5:c.9354G>A	ENSP00000439902.1:p.Met3118Ile
ENST00000544455.6:c.9354G>A	ENSP00000439902.1:p.Met3118Ile
ENST00000614259.2:c.9362G>A	ENSP00000506251.1:n.9362G>A
ENST00000665585.1:c.2232G>A
ENST00000665585.2:c.*916G>A	ENSP00000499570.2:n.*916G>A
ENST00000666593.1:c.376G>A	ENSP00000499256.1:n.376G>A
ENST00000666593.2:c.*199G>A	ENSP00000499256.2:n.*199G>A
ENST00000680887.1:c.9354G>A	ENSP00000505508.1:p.Met3118Ile
ENST00000700202.1:c.1770G>A	ENSP00000514856.1:p.Met590Ile
ENST00000700202.2:c.9303G>A	ENSP00000514856.2:p.Met3101Ile
ENST00000700203.1:n.1481G>A
XM_011535203.1:c.9354G>A	XP_011533505.1:p.Met3118Ile
XM_011535204.1:c.9258G>A	XP_011533506.1:p.Met3086Ile