Canonical Allele Identifier: CA026321

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52911
• ClinVar RCV Id: RCV000112819 ; RCV000238720 ; RCV000496879 ; RCV001184567 ; RCV003332106 ; RCV003473438
• dbSNP Id: rs80359247
• MyVariant Identifiers: chr13:g.32972533C>T (hg19) ; chr13:g.32398396C>T (hg38)
• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398396C>T , CM000675.2:g.32398396C>T	GRCh38
NC_000013.10:g.32972533C>T , CM000675.1:g.32972533C>T	GRCh37
NC_000013.9:g.31870533C>T	NCBI36
NG_012772.3:g.87917C>T , LRG_293:g.87917C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*406C>T	ENSP00000434898.2:n.*406C>T
ENST00000528762.2:c.*1250C>T	ENSP00000433168.2:n.*1250C>T
ENST00000530893.7:c.9514C>T	ENSP00000499438.2:p.Gln3172Ter
ENST00000665585.2:c.*1445C>T	ENSP00000499570.2:n.*1445C>T
ENST00000700202.2:c.9832C>T	ENSP00000514856.2:p.Gln3278Ter
ENST00000700202.1:c.2299C>T	ENSP00000514856.1:p.Gln767Ter
ENST00000700203.1:n.2010C>T
ENST00000380152.8:c.9883C>T MANE Select	ENSP00000369497.3:p.Gln3295Ter
ENST00000544455.6:c.9883C>T	ENSP00000439902.1:p.Gln3295Ter
ENST00000614259.2:c.9891C>T	ENSP00000506251.1:n.9891C>T
ENST00000680887.1:c.9883C>T	ENSP00000505508.1:p.Gln3295Ter
ENST00000380152.7:c.9883C>T	ENSP00000369497.3:p.Gln3295Ter
ENST00000533776.1:n.471C>T
ENST00000544455.5:c.9883C>T	ENSP00000439902.1:p.Gln3295Ter
NM_000059.3:c.9883C>T , LRG_293t1:c.9883C>T	NP_000050.2:p.Gln3295Ter
XM_011535203.1:c.9883C>T	XP_011533505.1:p.Gln3295Ter
XM_011535204.1:c.9787C>T	XP_011533506.1:p.Gln3263Ter
NM_000059.4:c.9883C>T MANE Select	NP_000050.3:p.Gln3295Ter