Canonical Allele Identifier: CA2499222325

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1172890
• ClinVar RCV Id: RCV001527003 ; RCV002568137 ; RCV001801006
• dbSNP Id: rs2137596307

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370400dup , CM000675.2:g.32370400dup	GRCh38
NC_000013.10:g.32944537dup , CM000675.1:g.32944537dup	GRCh37
NC_000013.9:g.31842537dup	NCBI36
NG_012772.3:g.59921dup , LRG_293:g.59921dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8332-2dup	ENSP00000434898.2:n.8332-2dup
ENST00000528762.2:c.8332-2dup	ENSP00000433168.2:n.8332-2dup
ENST00000530893.7:c.7963-2dup	ENSP00000499438.2:n.7963-2dup
ENST00000665585.2:c.8332-2dup	ENSP00000499570.2:n.8332-2dup
ENST00000666593.2:c.8332-2dup	ENSP00000499256.2:n.8332-2dup
ENST00000700202.2:c.8332-2dup	ENSP00000514856.2:n.8332-2dup
ENST00000700202.1:c.799-2dup	ENSP00000514856.1:n.799-2dup
ENST00000380152.8:c.8332-2dup MANE Select	ENSP00000369497.3:n.8332-2dup
ENST00000544455.6:c.8332-2dup	ENSP00000439902.1:n.8332-2dup
ENST00000614259.2:c.8340-2dup	ENSP00000506251.1:n.8340-2dup
ENST00000665585.1:c.897-2dup
ENST00000680887.1:c.8332-2dup	ENSP00000505508.1:n.8332-2dup
ENST00000380152.7:c.8332-2dup	ENSP00000369497.3:n.8332-2dup
ENST00000544455.5:c.8332-2dup	ENSP00000439902.1:n.8332-2dup
NM_000059.3:c.8332-2dup , LRG_293t1:c.8332-2dup	NP_000050.2:n.8332-2dup
XM_011535203.1:c.8332-2dup	XP_011533505.1:n.8332-2dup
XM_011535204.1:c.8236-2dup	XP_011533506.1:n.8236-2dup
XM_011535205.1:c.8332-2dup	XP_011533507.1:n.8332-2dup
NM_000059.4:c.8332-2dup MANE Select	NP_000050.3:n.8332-2dup