Canonical Allele Identifier: CA2742038380

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.[32333339_32333340del;32333342_32333343dup] , CM000675.2:g.[32333339_32333340del;32333342_32333343dup]	GRCh38
NC_000013.10:g.[32907476_32907477del;32907479_32907480dup] , CM000675.1:g.[32907476_32907477del;32907479_32907480dup]	GRCh37
NC_000013.9:g.[31805476_31805477del;31805479_31805480dup]	NCBI36
NG_012772.3:g.[22860_22861del;22863_22864dup] , LRG_293:g.[22860_22861del;22863_22864dup]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.[1861_1862del;1864_1865dup]	ENSP00000434898.2:p.Glu621SerfsTer?
ENST00000528762.2:c.[1861_1862del;1864_1865dup]	ENSP00000433168.2:p.Glu621SerfsTer?
ENST00000530893.7:c.[1492_1493del;1495_1496dup]	ENSP00000499438.2:p.Glu498SerfsTer?
ENST00000665585.2:c.[1861_1862del;1864_1865dup]	ENSP00000499570.2:p.Glu621SerfsTer?
ENST00000666593.2:c.[1861_1862del;1864_1865dup]	ENSP00000499256.2:p.Glu621SerfsTer?
ENST00000700202.2:c.[1861_1862del;1864_1865dup]	ENSP00000514856.2:p.Glu621SerfsTer?
ENST00000380152.8:c.[1861_1862del;1864_1865dup] MANE Select	ENSP00000369497.3:p.Glu621SerfsTer?
ENST00000544455.6:c.[1861_1862del;1864_1865dup]	ENSP00000439902.1:p.Glu621SerfsTer?
ENST00000614259.2:c.[1861_1862del;1864_1865dup]	ENSP00000506251.1:p.Glu621SerfsTer?
ENST00000680887.1:c.[1861_1862del;1864_1865dup]	ENSP00000505508.1:p.Glu621SerfsTer?
ENST00000380152.7:c.[1861_1862del;1864_1865dup]	ENSP00000369497.3:p.Glu621SerfsTer?
ENST00000544455.5:c.[1861_1862del;1864_1865dup]	ENSP00000439902.1:p.Glu621SerfsTer?
ENST00000614259.1:n.[1861_1862del;1864_1865dup]
NM_000059.3:c.[1861_1862del;1864_1865dup] , LRG_293t1:c.[1861_1862del;1864_1865dup]	NP_000050.2:p.Glu621SerfsTer?
XM_011535203.1:c.[1861_1862del;1864_1865dup]	XP_011533505.1:p.Glu621SerfsTer?
XM_011535204.1:c.[1861_1862del;1864_1865dup]	XP_011533506.1:p.Glu621SerfsTer?
XM_011535205.1:c.[1861_1862del;1864_1865dup]	XP_011533507.1:p.Glu621SerfsTer?
NM_000059.4:c.[1861_1862del;1864_1865dup] MANE Select	NP_000050.3:p.Glu621SerfsTer?