Canonical Allele Identifier: CA2082836138

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398456_32398459delinsAAAG , CM000675.2:g.32398456_32398459delinsAAAG	GRCh38
NC_000013.10:g.32972593_32972596delinsAAAG , CM000675.1:g.32972593_32972596delinsAAAG	GRCh37
NC_000013.9:g.31870593_31870596delinsAAAG	NCBI36
NG_012772.3:g.87977_87980delinsAAAG , LRG_293:g.87977_87980delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*466_*469delinsAAAG	ENSP00000434898.2:n.*466_*469delinsAAAG
ENST00000528762.2:c.*1310_*1313delinsAAAG	ENSP00000433168.2:n.*1310_*1313delinsAAAG
ENST00000530893.7:c.9574_9577delinsAAAG	ENSP00000499438.2:p.Lys3192=
ENST00000665585.2:c.*1505_*1508delinsAAAG	ENSP00000499570.2:n.*1505_*1508delinsAAAG
ENST00000700202.2:c.9892_9895delinsAAAG	ENSP00000514856.2:p.Lys3298=
ENST00000700202.1:c.2359_2362delinsAAAG	ENSP00000514856.1:p.Lys787=
ENST00000700203.1:n.2070_2073delinsAAAG
ENST00000380152.8:c.9943_9946delinsAAAG MANE Select	ENSP00000369497.3:p.Lys3315=
ENST00000544455.6:c.9943_9946delinsAAAG	ENSP00000439902.1:p.Lys3315=
ENST00000614259.2:c.9951_9954delinsAAAG	ENSP00000506251.1:n.9951_9954delinsAAAG
ENST00000680887.1:c.9943_9946delinsAAAG	ENSP00000505508.1:p.Lys3315=
ENST00000380152.7:c.9943_9946delinsAAAG	ENSP00000369497.3:p.Lys3315=
ENST00000544455.5:c.9943_9946delinsAAAG	ENSP00000439902.1:p.Lys3315=
NM_000059.3:c.9943_9946delinsAAAG , LRG_293t1:c.9943_9946delinsAAAG	NP_000050.2:p.Lys3315=
XM_011535203.1:c.9943_9946delinsAAAG	XP_011533505.1:p.Lys3315=
XM_011535204.1:c.9847_9850delinsAAAG	XP_011533506.1:p.Lys3283=
NM_000059.4:c.9943_9946delinsAAAG MANE Select	NP_000050.3:p.Lys3315=