Canonical Allele Identifier: CA658683804

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 491303
• ClinVar RCV Id: RCV000584388
• dbSNP Id: rs1555284670
• MyVariant Identifiers: chr13:g.32914900_32914903dup (hg19) ; chr13:g.32340763_32340766dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32340763_32340766dup , CM000675.2:g.32340763_32340766dup	GRCh38
NC_000013.10:g.32914900_32914903dup , CM000675.1:g.32914900_32914903dup	GRCh37
NC_000013.9:g.31812900_31812903dup	NCBI36
NG_012772.3:g.30284_30287dup , LRG_293:g.30284_30287dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6408_6411dup	ENSP00000434898.2:p.Val2138LysfsTer3
ENST00000528762.2:c.6408_6411dup	ENSP00000433168.2:p.Val2138LysfsTer3
ENST00000530893.7:c.6039_6042dup	ENSP00000499438.2:p.Val2015LysfsTer3
ENST00000665585.2:c.6408_6411dup	ENSP00000499570.2:p.Val2138LysfsTer3
ENST00000666593.2:c.6408_6411dup	ENSP00000499256.2:p.Val2138LysfsTer3
ENST00000700202.2:c.6408_6411dup	ENSP00000514856.2:p.Val2138LysfsTer3
ENST00000380152.8:c.6408_6411dup MANE Select	ENSP00000369497.3:p.Val2138LysfsTer3
ENST00000544455.6:c.6408_6411dup	ENSP00000439902.1:p.Val2138LysfsTer3
ENST00000614259.2:c.6408_6411dup	ENSP00000506251.1:p.Val2138LysfsTer3
ENST00000680887.1:c.6408_6411dup	ENSP00000505508.1:p.Val2138LysfsTer3
ENST00000380152.7:c.6408_6411dup	ENSP00000369497.3:p.Val2138LysfsTer3
ENST00000544455.5:c.6408_6411dup	ENSP00000439902.1:p.Val2138LysfsTer3
ENST00000614259.1:n.6408_6411dup
NM_000059.3:c.6408_6411dup , LRG_293t1:c.6408_6411dup	NP_000050.2:p.Val2138LysfsTer3
XM_011535203.1:c.6408_6411dup	XP_011533505.1:p.Val2138LysfsTer3
XM_011535204.1:c.6408_6411dup	XP_011533506.1:p.Val2138LysfsTer3
XM_011535205.1:c.6408_6411dup	XP_011533507.1:p.Val2138LysfsTer3
NM_000059.4:c.6408_6411dup MANE Select	NP_000050.3:p.Val2138LysfsTer3