Canonical Allele Identifier: CA2499222363

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1088910
• ClinVar RCV Id: RCV001407562
• dbSNP Id: rs750834639

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379921C>T , CM000675.2:g.32379921C>T	GRCh38
NC_000013.10:g.32954058C>T , CM000675.1:g.32954058C>T	GRCh37
NC_000013.9:g.31852058C>T	NCBI36
NG_012772.3:g.69442C>T , LRG_293:g.69442C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9117+8C>T	ENSP00000434898.2:n.9117+8C>T
ENST00000528762.2:c.*484+8C>T	ENSP00000433168.2:n.*484+8C>T
ENST00000530893.7:c.8748+8C>T	ENSP00000499438.2:n.8748+8C>T
ENST00000665585.2:c.*679+8C>T	ENSP00000499570.2:n.*679+8C>T
ENST00000666593.2:c.9117+8C>T	ENSP00000499256.2:n.9117+8C>T
ENST00000700202.2:c.9066+8C>T	ENSP00000514856.2:n.9066+8C>T
ENST00000700202.1:c.1533+8C>T	ENSP00000514856.1:n.1533+8C>T
ENST00000700203.1:n.1244+8C>T
ENST00000380152.8:c.9117+8C>T MANE Select	ENSP00000369497.3:n.9117+8C>T
ENST00000544455.6:c.9117+8C>T	ENSP00000439902.1:n.9117+8C>T
ENST00000614259.2:c.9125+8C>T	ENSP00000506251.1:n.9125+8C>T
ENST00000665585.1:c.1995+8C>T
ENST00000680887.1:c.9117+8C>T	ENSP00000505508.1:n.9117+8C>T
ENST00000380152.7:c.9117+8C>T	ENSP00000369497.3:n.9117+8C>T
ENST00000470094.1:c.74+8C>T
ENST00000544455.5:c.9117+8C>T	ENSP00000439902.1:n.9117+8C>T
NM_000059.3:c.9117+8C>T , LRG_293t1:c.9117+8C>T	NP_000050.2:n.9117+8C>T
XM_011535203.1:c.9117+8C>T	XP_011533505.1:n.9117+8C>T
XM_011535204.1:c.9021+8C>T	XP_011533506.1:n.9021+8C>T
NM_000059.4:c.9117+8C>T MANE Select	NP_000050.3:n.9117+8C>T