Canonical Allele Identifier: CA2499222356

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1073704
• ClinVar RCV Id: RCV001386776
• dbSNP Id: rs2137621956

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379756del , CM000675.2:g.32379756del	GRCh38
NC_000013.10:g.32953893del , CM000675.1:g.32953893del	GRCh37
NC_000013.9:g.31851893del	NCBI36
NG_012772.3:g.69277del , LRG_293:g.69277del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8960del	ENSP00000434898.2:p.Leu2987ArgfsTer14
ENST00000528762.2:c.*327del	ENSP00000433168.2:n.*327del
ENST00000530893.7:c.8591del	ENSP00000499438.2:p.Leu2864ArgfsTer14
ENST00000665585.2:c.*522del	ENSP00000499570.2:n.*522del
ENST00000666593.2:c.8960del	ENSP00000499256.2:p.Leu2987ArgfsTer14
ENST00000700202.2:c.8954-45del	ENSP00000514856.2:n.8954-45del
ENST00000700202.1:c.1421-45del	ENSP00000514856.1:n.1421-45del
ENST00000700203.1:n.1087del
ENST00000380152.8:c.8960del MANE Select	ENSP00000369497.3:p.Leu2987ArgfsTer14
ENST00000544455.6:c.8960del	ENSP00000439902.1:p.Leu2987ArgfsTer14
ENST00000614259.2:c.8968del	ENSP00000506251.1:n.8968del
ENST00000665585.1:c.1838del
ENST00000680887.1:c.8960del	ENSP00000505508.1:p.Leu2987ArgfsTer14
ENST00000380152.7:c.8960del	ENSP00000369497.3:p.Leu2987ArgfsTer14
ENST00000544455.5:c.8960del	ENSP00000439902.1:p.Leu2987ArgfsTer14
NM_000059.3:c.8960del , LRG_293t1:c.8960del	NP_000050.2:p.Leu2987ArgfsTer14
XM_011535203.1:c.8960del	XP_011533505.1:p.Leu2987ArgfsTer14
XM_011535204.1:c.8864del	XP_011533506.1:p.Leu2955ArgfsTer14
XM_011535205.1:c.8761del	XP_011533507.1:p.Ter2921GluextTer?
NM_000059.4:c.8960del MANE Select	NP_000050.3:p.Leu2987ArgfsTer14