Canonical Allele Identifier: CA2580087488

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1777333
• ClinVar RCV Id: RCV002395053

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398560_32398561del , CM000675.2:g.32398560_32398561del	GRCh38
NC_000013.10:g.32972697_32972698del , CM000675.1:g.32972697_32972698del	GRCh37
NC_000013.9:g.31870697_31870698del	NCBI36
NG_012772.3:g.88081_88082del , LRG_293:g.88081_88082del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*570_*571del	ENSP00000434898.2:n.*570_*571del
ENST00000528762.2:c.*1414_*1415del	ENSP00000433168.2:n.*1414_*1415del
ENST00000530893.7:c.9678_9679del	ENSP00000499438.2:p.Gln3227SerfsTer17
ENST00000665585.2:c.*1609_*1610del	ENSP00000499570.2:n.*1609_*1610del
ENST00000700202.2:c.9996_9997del	ENSP00000514856.2:p.Gln3333SerfsTer17
ENST00000700202.1:c.2463_2464del	ENSP00000514856.1:p.Gln822SerfsTer17
ENST00000700203.1:n.2174_2175del
ENST00000380152.8:c.10047_10048del MANE Select	ENSP00000369497.3:p.Gln3350SerfsTer17
ENST00000544455.6:c.10047_10048del	ENSP00000439902.1:p.Gln3350SerfsTer17
ENST00000614259.2:c.10055_10056del	ENSP00000506251.1:n.10055_10056del
ENST00000680887.1:c.10047_10048del	ENSP00000505508.1:p.Gln3350SerfsTer17
ENST00000380152.7:c.10047_10048del	ENSP00000369497.3:p.Gln3350SerfsTer17
ENST00000544455.5:c.10047_10048del	ENSP00000439902.1:p.Gln3350SerfsTer17
NM_000059.3:c.10047_10048del , LRG_293t1:c.10047_10048del	NP_000050.2:p.Gln3350SerfsTer17
XM_011535203.1:c.10047_10048del	XP_011533505.1:p.Gln3350SerfsTer17
XM_011535204.1:c.9951_9952del	XP_011533506.1:p.Gln3318SerfsTer17
NM_000059.4:c.10047_10048del MANE Select	NP_000050.3:p.Gln3350SerfsTer17