Canonical Allele Identifier: CA387758688

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380139A>T , CM000675.2:g.32380139A>T	GRCh38
NC_000013.10:g.32954276A>T , CM000675.1:g.32954276A>T	GRCh37
NC_000013.9:g.31852276A>T	NCBI36
NG_012772.3:g.69660A>T , LRG_293:g.69660A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9250A>T MANE Select	NP_000050.3:p.Lys3084Ter
ENST00000380152.8:c.9250A>T MANE Select	ENSP00000369497.3:p.Lys3084Ter
NM_000059.3:c.9250A>T , LRG_293t1:c.9250A>T	NP_000050.2:p.Lys3084Ter
ENST00000380152.7:c.9250A>T	ENSP00000369497.3:p.Lys3084Ter
ENST00000470094.1:c.207A>T
ENST00000470094.2:c.9250A>T	ENSP00000434898.2:p.Lys3084Ter
ENST00000528762.2:c.*617A>T	ENSP00000433168.2:n.*617A>T
ENST00000530893.7:c.8881A>T	ENSP00000499438.2:p.Lys2961Ter
ENST00000544455.5:c.9250A>T	ENSP00000439902.1:p.Lys3084Ter
ENST00000544455.6:c.9250A>T	ENSP00000439902.1:p.Lys3084Ter
ENST00000614259.2:c.9258A>T	ENSP00000506251.1:n.9258A>T
ENST00000665585.1:c.2128A>T
ENST00000665585.2:c.*812A>T	ENSP00000499570.2:n.*812A>T
ENST00000666593.1:c.133A>T	ENSP00000499256.1:p.Lys45Ter
ENST00000666593.2:c.9250A>T	ENSP00000499256.2:p.Lys3084Ter
ENST00000680887.1:c.9250A>T	ENSP00000505508.1:p.Lys3084Ter
ENST00000700202.1:c.1666A>T	ENSP00000514856.1:p.Lys556Ter
ENST00000700202.2:c.9199A>T	ENSP00000514856.2:p.Lys3067Ter
ENST00000700203.1:n.1377A>T
XM_011535203.1:c.9250A>T	XP_011533505.1:p.Lys3084Ter
XM_011535204.1:c.9154A>T	XP_011533506.1:p.Lys3052Ter