Canonical Allele Identifier: CA025834

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52684
• ClinVar RCV Id: RCV000257676 ; RCV001185074 ; RCV001818222 ; RCV003529948 ; RCV002508919
• dbSNP Id: rs397508010
• MyVariant Identifiers: chr13:g.32953516_32953519del (hg19) ; chr13:g.32379379_32379382del (hg38)
• PubMed: PMID:22034289

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379379_32379382del , CM000675.2:g.32379379_32379382del	GRCh38
NC_000013.10:g.32953516_32953519del , CM000675.1:g.32953516_32953519del	GRCh37
NC_000013.9:g.31851516_31851519del	NCBI36
NG_012772.3:g.68900_68903del , LRG_293:g.68900_68903del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8817_8820del	ENSP00000434898.2:p.Lys2939AsnfsTer?
ENST00000528762.2:c.*184_*187del	ENSP00000433168.2:n.*184_*187del
ENST00000530893.7:c.8448_8451del	ENSP00000499438.2:p.Lys2816AsnfsTer?
ENST00000665585.2:c.*379_*382del	ENSP00000499570.2:n.*379_*382del
ENST00000666593.2:c.8817_8820del	ENSP00000499256.2:p.Lys2939AsnfsTer?
ENST00000700202.2:c.8817_8820del	ENSP00000514856.2:p.Lys2939AsnfsTer?
ENST00000700202.1:c.1284_1287del	ENSP00000514856.1:p.Lys428AsnfsTer?
ENST00000700203.1:n.944_947del
ENST00000380152.8:c.8817_8820del MANE Select	ENSP00000369497.3:p.Lys2939AsnfsTer?
ENST00000544455.6:c.8817_8820del	ENSP00000439902.1:p.Lys2939AsnfsTer?
ENST00000614259.2:c.8825_8828del	ENSP00000506251.1:n.8825_8828del
ENST00000665585.1:c.1695_1698del
ENST00000680887.1:c.8817_8820del	ENSP00000505508.1:p.Lys2939AsnfsTer?
ENST00000380152.7:c.8817_8820del	ENSP00000369497.3:p.Lys2939AsnfsTer?
ENST00000528762.1:c.379_382del	ENSP00000433168.1:n.379_382del
ENST00000544455.5:c.8817_8820del	ENSP00000439902.1:p.Lys2939AsnfsTer?
NM_000059.3:c.8817_8820del , LRG_293t1:c.8817_8820del	NP_000050.2:p.Lys2939AsnfsTer?
XM_011535203.1:c.8817_8820del	XP_011533505.1:p.Lys2939AsnfsTer?
XM_011535204.1:c.8721_8724del	XP_011533506.1:p.Lys2907AsnfsTer?
XM_011535205.1:c.8755-371_8755-368del	XP_011533507.1:n.8755-371_8755-368del
NM_000059.4:c.8817_8820del MANE Select	NP_000050.3:p.Lys2939AsnfsTer?