Canonical Allele Identifier: CA915948633

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 823496
• ClinVar RCV Id: RCV001019787
• dbSNP Id: rs1593201853

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398318_32398320dup , CM000675.2:g.32398318_32398320dup	GRCh38
NC_000013.10:g.32972455_32972457dup , CM000675.1:g.32972455_32972457dup	GRCh37
NC_000013.9:g.31870455_31870457dup	NCBI36
NG_012772.3:g.87839_87841dup , LRG_293:g.87839_87841dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*328_*330dup	ENSP00000434898.2:n.*328_*330dup
ENST00000528762.2:c.*1172_*1174dup	ENSP00000433168.2:n.*1172_*1174dup
ENST00000530893.7:c.9436_9438dup	ENSP00000499438.2:p.Arg3146_Ala3147insArg
ENST00000665585.2:c.*1367_*1369dup	ENSP00000499570.2:n.*1367_*1369dup
ENST00000700202.2:c.9754_9756dup	ENSP00000514856.2:p.Arg3252_Ala3253insArg
ENST00000700202.1:c.2221_2223dup	ENSP00000514856.1:p.Arg741_Ala742insArg
ENST00000700203.1:n.1932_1934dup
ENST00000380152.8:c.9805_9807dup MANE Select	ENSP00000369497.3:p.Arg3269_Ala3270insArg
ENST00000544455.6:c.9805_9807dup	ENSP00000439902.1:p.Arg3269_Ala3270insArg
ENST00000614259.2:c.9813_9815dup	ENSP00000506251.1:n.9813_9815dup
ENST00000680887.1:c.9805_9807dup	ENSP00000505508.1:p.Arg3269_Ala3270insArg
ENST00000380152.7:c.9805_9807dup	ENSP00000369497.3:p.Arg3269_Ala3270insArg
ENST00000533776.1:n.393_395dup
ENST00000544455.5:c.9805_9807dup	ENSP00000439902.1:p.Arg3269_Ala3270insArg
NM_000059.3:c.9805_9807dup , LRG_293t1:c.9805_9807dup	NP_000050.2:p.Arg3269_Ala3270insArg
XM_011535203.1:c.9805_9807dup	XP_011533505.1:p.Arg3269_Ala3270insArg
XM_011535204.1:c.9709_9711dup	XP_011533506.1:p.Arg3237_Ala3238insArg
NM_000059.4:c.9805_9807dup MANE Select	NP_000050.3:p.Arg3269_Ala3270insArg