Canonical Allele Identifier: CA2580087442

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2127883
• ClinVar RCV Id: RCV003055711

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398222_32398226del , CM000675.2:g.32398222_32398226del	GRCh38
NC_000013.10:g.32972359_32972363del , CM000675.1:g.32972359_32972363del	GRCh37
NC_000013.9:g.31870359_31870363del	NCBI36
NG_012772.3:g.87743_87747del , LRG_293:g.87743_87747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*232_*236del	ENSP00000434898.2:n.*232_*236del
ENST00000528762.2:c.*1076_*1080del	ENSP00000433168.2:n.*1076_*1080del
ENST00000530893.7:c.9340_9344del	ENSP00000499438.2:p.Arg3114ValfsTer16
ENST00000665585.2:c.*1271_*1275del	ENSP00000499570.2:n.*1271_*1275del
ENST00000700202.2:c.9658_9662del	ENSP00000514856.2:p.Arg3220ValfsTer16
ENST00000700202.1:c.2125_2129del	ENSP00000514856.1:p.Arg709ValfsTer16
ENST00000700203.1:n.1836_1840del
ENST00000380152.8:c.9709_9713del MANE Select	ENSP00000369497.3:p.Arg3237ValfsTer16
ENST00000544455.6:c.9709_9713del	ENSP00000439902.1:p.Arg3237ValfsTer16
ENST00000614259.2:c.9717_9721del	ENSP00000506251.1:n.9717_9721del
ENST00000665585.1:c.2587_2591del
ENST00000680887.1:c.9709_9713del	ENSP00000505508.1:p.Arg3237ValfsTer16
ENST00000380152.7:c.9709_9713del	ENSP00000369497.3:p.Arg3237ValfsTer16
ENST00000470094.1:c.792_796del
ENST00000533776.1:n.297_301del
ENST00000544455.5:c.9709_9713del	ENSP00000439902.1:p.Arg3237ValfsTer16
NM_000059.3:c.9709_9713del , LRG_293t1:c.9709_9713del	NP_000050.2:p.Arg3237ValfsTer16
XM_011535203.1:c.9709_9713del	XP_011533505.1:p.Arg3237ValfsTer16
XM_011535204.1:c.9613_9617del	XP_011533506.1:p.Arg3205ValfsTer16
NM_000059.4:c.9709_9713del MANE Select	NP_000050.3:p.Arg3237ValfsTer16