Canonical Allele Identifier: CA10583144

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 236920
• ClinVar RCV Id: RCV000230336 ; RCV000661854
• dbSNP Id: rs878853611
• MyVariant Identifiers: chr13:g.32945190_32945191del (hg19) ; chr13:g.32371053_32371054del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371053_32371054del , CM000675.2:g.32371053_32371054del	GRCh38
NC_000013.10:g.32945190_32945191del , CM000675.1:g.32945190_32945191del	GRCh37
NC_000013.9:g.31843190_31843191del	NCBI36
NG_012772.3:g.60574_60575del , LRG_293:g.60574_60575del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8585_8586del	ENSP00000434898.2:p.Leu2862ArgfsTer6
ENST00000528762.2:c.8585_8586del	ENSP00000433168.2:p.Leu2862ArgfsTer6
ENST00000530893.7:c.8216_8217del	ENSP00000499438.2:p.Leu2739ArgfsTer6
ENST00000665585.2:c.8585_8586del	ENSP00000499570.2:p.Leu2862ArgfsTer6
ENST00000666593.2:c.8585_8586del	ENSP00000499256.2:p.Leu2862ArgfsTer6
ENST00000700202.2:c.8585_8586del	ENSP00000514856.2:p.Leu2862ArgfsTer6
ENST00000700202.1:c.1052_1053del	ENSP00000514856.1:p.Leu351ArgfsTer6
ENST00000380152.8:c.8585_8586del MANE Select	ENSP00000369497.3:p.Leu2862ArgfsTer6
ENST00000544455.6:c.8585_8586del	ENSP00000439902.1:p.Leu2862ArgfsTer6
ENST00000614259.2:c.8593_8594del	ENSP00000506251.1:n.8593_8594del
ENST00000665585.1:c.1150_1151del
ENST00000680887.1:c.8585_8586del	ENSP00000505508.1:p.Leu2862ArgfsTer6
ENST00000380152.7:c.8585_8586del	ENSP00000369497.3:p.Leu2862ArgfsTer6
ENST00000528762.1:c.83_84del	ENSP00000433168.1:p.Leu28ArgfsTer6
ENST00000544455.5:c.8585_8586del	ENSP00000439902.1:p.Leu2862ArgfsTer6
NM_000059.3:c.8585_8586del , LRG_293t1:c.8585_8586del	NP_000050.2:p.Leu2862ArgfsTer6
XM_011535203.1:c.8585_8586del	XP_011533505.1:p.Leu2862ArgfsTer6
XM_011535204.1:c.8489_8490del	XP_011533506.1:p.Leu2830ArgfsTer6
XM_011535205.1:c.8585_8586del	XP_011533507.1:p.Leu2862ArgfsTer6
NM_000059.4:c.8585_8586del MANE Select	NP_000050.3:p.Leu2862ArgfsTer6