Canonical Allele Identifier: CA658823610

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 548407
• ClinVar RCV Id: RCV000661754
• dbSNP Id: rs1555288165
• MyVariant Identifiers: chr13:g.32950882_32950883dup (hg19) ; chr13:g.32376745_32376746dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376745_32376746dup , CM000675.2:g.32376745_32376746dup	GRCh38
NC_000013.10:g.32950882_32950883dup , CM000675.1:g.32950882_32950883dup	GRCh37
NC_000013.9:g.31848882_31848883dup	NCBI36
NG_012772.3:g.66266_66267dup , LRG_293:g.66266_66267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8708_8709dup	ENSP00000434898.2:p.Leu2904SerfsTer6
ENST00000528762.2:c.*75_*76dup	ENSP00000433168.2:n.*75_*76dup
ENST00000530893.7:c.8339_8340dup	ENSP00000499438.2:p.Leu2781SerfsTer6
ENST00000665585.2:c.*270_*271dup	ENSP00000499570.2:n.*270_*271dup
ENST00000666593.2:c.8708_8709dup	ENSP00000499256.2:p.Leu2904SerfsTer6
ENST00000700202.2:c.8708_8709dup	ENSP00000514856.2:p.Leu2904SerfsTer6
ENST00000700202.1:c.1175_1176dup	ENSP00000514856.1:p.Leu393SerfsTer6
ENST00000700203.1:n.835_836dup
ENST00000380152.8:c.8708_8709dup MANE Select	ENSP00000369497.3:p.Leu2904SerfsTer6
ENST00000544455.6:c.8708_8709dup	ENSP00000439902.1:p.Leu2904SerfsTer6
ENST00000614259.2:c.8716_8717dup	ENSP00000506251.1:n.8716_8717dup
ENST00000665585.1:c.1586_1587dup
ENST00000680887.1:c.8708_8709dup	ENSP00000505508.1:p.Leu2904SerfsTer6
ENST00000380152.7:c.8708_8709dup	ENSP00000369497.3:p.Leu2904SerfsTer6
ENST00000528762.1:c.270_271dup	ENSP00000433168.1:n.270_271dup
ENST00000544455.5:c.8708_8709dup	ENSP00000439902.1:p.Leu2904SerfsTer6
NM_000059.3:c.8708_8709dup , LRG_293t1:c.8708_8709dup	NP_000050.2:p.Leu2904SerfsTer6
XM_011535203.1:c.8708_8709dup	XP_011533505.1:p.Leu2904SerfsTer6
XM_011535204.1:c.8612_8613dup	XP_011533506.1:p.Leu2872SerfsTer6
XM_011535205.1:c.8708_8709dup	XP_011533507.1:p.Leu2904SerfsTer6
NM_000059.4:c.8708_8709dup MANE Select	NP_000050.3:p.Leu2904SerfsTer6