Canonical Allele Identifier: CA10589570

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267165
• ClinVar RCV Id: RCV000257233
• dbSNP Id: rs886040844
• MyVariant Identifiers: chr13:g.32971070_32971077del (hg19) ; chr13:g.32396933_32396940del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396933_32396940del , CM000675.2:g.32396933_32396940del	GRCh38
NC_000013.10:g.32971070_32971077del , CM000675.1:g.32971070_32971077del	GRCh37
NC_000013.9:g.31869070_31869077del	NCBI36
NG_012772.3:g.86454_86461del , LRG_293:g.86454_86461del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*60_*67del	ENSP00000434898.2:n.*60_*67del
ENST00000528762.2:c.*904_*911del	ENSP00000433168.2:n.*904_*911del
ENST00000530893.7:c.9168_9175del	ENSP00000499438.2:p.Leu3057TyrfsTer6
ENST00000665585.2:c.*1099_*1106del	ENSP00000499570.2:n.*1099_*1106del
ENST00000700202.2:c.9486_9493del	ENSP00000514856.2:p.Leu3163TyrfsTer6
ENST00000700202.1:c.1953_1960del	ENSP00000514856.1:p.Leu652TyrfsTer6
ENST00000700203.1:n.1664_1671del
ENST00000380152.8:c.9537_9544del MANE Select	ENSP00000369497.3:p.Leu3180TyrfsTer6
ENST00000544455.6:c.9537_9544del	ENSP00000439902.1:p.Leu3180TyrfsTer6
ENST00000614259.2:c.9545_9552del	ENSP00000506251.1:n.9545_9552del
ENST00000665585.1:c.2415_2422del
ENST00000680887.1:c.9537_9544del	ENSP00000505508.1:p.Leu3180TyrfsTer6
ENST00000380152.7:c.9537_9544del	ENSP00000369497.3:p.Leu3180TyrfsTer6
ENST00000470094.1:c.620_627del
ENST00000533776.1:n.125_132del
ENST00000544455.5:c.9537_9544del	ENSP00000439902.1:p.Leu3180TyrfsTer6
NM_000059.3:c.9537_9544del , LRG_293t1:c.9537_9544del	NP_000050.2:p.Leu3180TyrfsTer6
XM_011535203.1:c.9537_9544del	XP_011533505.1:p.Leu3180TyrfsTer6
XM_011535204.1:c.9441_9448del	XP_011533506.1:p.Leu3148TyrfsTer6
NM_000059.4:c.9537_9544del MANE Select	NP_000050.3:p.Leu3180TyrfsTer6