Canonical Allele Identifier: CA247495088

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380124G>T , CM000675.2:g.32380124G>T	GRCh38
NC_000013.10:g.32954261G>T , CM000675.1:g.32954261G>T	GRCh37
NC_000013.9:g.31852261G>T	NCBI36
NG_012772.3:g.69645G>T , LRG_293:g.69645G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9235G>T MANE Select	NP_000050.3:p.Val3079Phe
ENST00000380152.8:c.9235G>T MANE Select	ENSP00000369497.3:p.Val3079Phe
NM_000059.3:c.9235G>T , LRG_293t1:c.9235G>T	NP_000050.2:p.Val3079Phe
ENST00000380152.7:c.9235G>T	ENSP00000369497.3:p.Val3079Phe
ENST00000470094.1:c.192G>T
ENST00000470094.2:c.9235G>T	ENSP00000434898.2:p.Val3079Phe
ENST00000528762.2:c.*602G>T	ENSP00000433168.2:n.*602G>T
ENST00000530893.7:c.8866G>T	ENSP00000499438.2:p.Val2956Phe
ENST00000544455.5:c.9235G>T	ENSP00000439902.1:p.Val3079Phe
ENST00000544455.6:c.9235G>T	ENSP00000439902.1:p.Val3079Phe
ENST00000614259.2:c.9243G>T	ENSP00000506251.1:n.9243G>T
ENST00000665585.1:c.2113G>T
ENST00000665585.2:c.*797G>T	ENSP00000499570.2:n.*797G>T
ENST00000666593.1:c.118G>T	ENSP00000499256.1:p.Val40Phe
ENST00000666593.2:c.9235G>T	ENSP00000499256.2:p.Val3079Phe
ENST00000680887.1:c.9235G>T	ENSP00000505508.1:p.Val3079Phe
ENST00000700202.1:c.1651G>T	ENSP00000514856.1:p.Val551Phe
ENST00000700202.2:c.9184G>T	ENSP00000514856.2:p.Val3062Phe
ENST00000700203.1:n.1362G>T
XM_011535203.1:c.9235G>T	XP_011533505.1:p.Val3079Phe
XM_011535204.1:c.9139G>T	XP_011533506.1:p.Val3047Phe