Canonical Allele Identifier: CA2499222388

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1135107
• ClinVar RCV Id: RCV001470287
• dbSNP Id: rs1566260321

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397055G>A , CM000675.2:g.32397055G>A	GRCh38
NC_000013.10:g.32971192G>A , CM000675.1:g.32971192G>A	GRCh37
NC_000013.9:g.31869192G>A	NCBI36
NG_012772.3:g.86576G>A , LRG_293:g.86576G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*171+11G>A	ENSP00000434898.2:n.*171+11G>A
ENST00000528762.2:c.*1015+11G>A	ENSP00000433168.2:n.*1015+11G>A
ENST00000530893.7:c.9279+11G>A	ENSP00000499438.2:n.9279+11G>A
ENST00000665585.2:c.*1210+11G>A	ENSP00000499570.2:n.*1210+11G>A
ENST00000700202.2:c.9597+11G>A	ENSP00000514856.2:n.9597+11G>A
ENST00000700202.1:c.2064+11G>A	ENSP00000514856.1:n.2064+11G>A
ENST00000700203.1:n.1775+11G>A
ENST00000380152.8:c.9648+11G>A MANE Select	ENSP00000369497.3:n.9648+11G>A
ENST00000544455.6:c.9648+11G>A	ENSP00000439902.1:n.9648+11G>A
ENST00000614259.2:c.9656+11G>A	ENSP00000506251.1:n.9656+11G>A
ENST00000665585.1:c.2526+11G>A
ENST00000680887.1:c.9648+11G>A	ENSP00000505508.1:n.9648+11G>A
ENST00000380152.7:c.9648+11G>A	ENSP00000369497.3:n.9648+11G>A
ENST00000470094.1:c.731+11G>A
ENST00000533776.1:n.236+11G>A
ENST00000544455.5:c.9648+11G>A	ENSP00000439902.1:n.9648+11G>A
NM_000059.3:c.9648+11G>A , LRG_293t1:c.9648+11G>A	NP_000050.2:n.9648+11G>A
XM_011535203.1:c.9648+11G>A	XP_011533505.1:n.9648+11G>A
XM_011535204.1:c.9552+11G>A	XP_011533506.1:n.9552+11G>A
NM_000059.4:c.9648+11G>A MANE Select	NP_000050.3:n.9648+11G>A