Canonical Allele Identifier: CA2082834342

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363207_32363230delinsAGATCGGCTATAAAAAAGATAATG , CM000675.2:g.32363207_32363230delinsAGATCGGCTATAAAAAAGATAATG	GRCh38
NC_000013.10:g.32937344_32937367delinsAGATCGGCTATAAAAAAGATAATG , CM000675.1:g.32937344_32937367delinsAGATCGGCTATAAAAAAGATAATG	GRCh37
NC_000013.9:g.31835344_31835367delinsAGATCGGCTATAAAAAAGATAATG	NCBI36
NG_012772.3:g.52728_52751delinsAGATCGGCTATAAAAAAGATAATG , LRG_293:g.52728_52751delinsAGATCGGCTATAAAAAAGATAATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000434898.2:p.Arg2669=
ENST00000528762.2:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000433168.2:p.Arg2669=
ENST00000530893.7:c.7636_7659delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000499438.2:p.Arg2546=
ENST00000665585.2:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000499570.2:p.Arg2669=
ENST00000666593.2:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000499256.2:p.Arg2669=
ENST00000700202.2:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000514856.2:p.Arg2669=
ENST00000700202.1:c.472_495delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000514856.1:p.Arg158=
ENST00000380152.8:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG MANE Select	ENSP00000369497.3:p.Arg2669=
ENST00000544455.6:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000439902.1:p.Arg2669=
ENST00000614259.2:c.8013_8036delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000506251.1:n.8013_8036delinsAGATCG...
ENST00000665585.1:c.570_593delinsAGATCGGCTATAAAAAAGATAATG
ENST00000680887.1:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000505508.1:p.Arg2669=
ENST00000380152.7:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000369497.3:p.Arg2669=
ENST00000544455.5:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	ENSP00000439902.1:p.Arg2669=
NM_000059.3:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG , LRG_293t1:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	NP_000050.2:p.Arg2669=
XM_011535203.1:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	XP_011533505.1:p.Arg2669=
XM_011535204.1:c.7909_7932delinsAGATCGGCTATAAAAAAGATAATG	XP_011533506.1:p.Arg2637=
XM_011535205.1:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG	XP_011533507.1:p.Arg2669=
NM_000059.4:c.8005_8028delinsAGATCGGCTATAAAAAAGATAATG MANE Select	NP_000050.3:p.Arg2669=