Canonical Allele Identifier: CA10586480

Gene: BRCA2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319213dup , CM000675.2:g.32319213dup	GRCh38
NC_000013.10:g.32893350dup , CM000675.1:g.32893350dup	GRCh37
NC_000013.9:g.31791350dup	NCBI36
NG_012772.3:g.8734dup , LRG_293:g.8734dup
NG_017006.2:g.1153dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.204dup	ENSP00000434898.2:p.Pro69ThrfsTer4
ENST00000528762.2:c.204dup	ENSP00000433168.2:p.Pro69ThrfsTer4
ENST00000530893.7:c.-166dup	ENSP00000499438.2:n.-166dup
ENST00000665585.2:c.204dup	ENSP00000499570.2:p.Pro69ThrfsTer4
ENST00000666593.2:c.204dup	ENSP00000499256.2:p.Pro69ThrfsTer4
ENST00000700202.2:c.204dup	ENSP00000514856.2:p.Pro69ThrfsTer4
ENST00000700200.1:n.191+2686dup
ENST00000700201.1:c.204dup	ENSP00000514855.1:p.Pro69ThrfsTer4
ENST00000380152.8:c.204dup MANE Select	ENSP00000369497.3:p.Pro69ThrfsTer4
ENST00000544455.6:c.204dup	ENSP00000439902.1:p.Pro69ThrfsTer4
ENST00000614259.2:c.204dup	ENSP00000506251.1:p.Pro69ThrfsTer4
ENST00000680887.1:c.204dup	ENSP00000505508.1:p.Pro69ThrfsTer4
ENST00000380152.7:c.204dup	ENSP00000369497.3:p.Pro69ThrfsTer4
ENST00000530893.6:n.402dup
ENST00000544455.5:c.204dup	ENSP00000439902.1:p.Pro69ThrfsTer4
ENST00000614259.1:n.204dup
NM_000059.3:c.204dup , LRG_293t1:c.204dup	NP_000050.2:p.Pro69ThrfsTer4
XM_011535203.1:c.204dup	XP_011533505.1:p.Pro69ThrfsTer4
XM_011535204.1:c.204dup	XP_011533506.1:p.Pro69ThrfsTer4
XM_011535205.1:c.204dup	XP_011533507.1:p.Pro69ThrfsTer4
NM_000059.4:c.204dup MANE Select	NP_000050.3:p.Pro69ThrfsTer4