Canonical Allele Identifier: CA026175

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52848
• ClinVar RCV Id: RCV000114117 ; RCV000414553 ; RCV000496504 ; RCV003584525 ; RCV003476939
• dbSNP Id: rs80359222
• MyVariant Identifiers: chr13:g.32969050A>T (hg19) ; chr13:g.32394913A>T (hg38)
• PubMed: PMID:23469205 ; PMID:24884479

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394913A>T , CM000675.2:g.32394913A>T	GRCh38
NC_000013.10:g.32969050A>T , CM000675.1:g.32969050A>T	GRCh37
NC_000013.9:g.31867050A>T	NCBI36
NG_012772.3:g.84434A>T , LRG_293:g.84434A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9481A>T	ENSP00000434898.2:p.Lys3161Ter
ENST00000528762.2:c.*848A>T	ENSP00000433168.2:n.*848A>T
ENST00000530893.7:c.9112A>T	ENSP00000499438.2:p.Lys3038Ter
ENST00000665585.2:c.*1043A>T	ENSP00000499570.2:n.*1043A>T
ENST00000666593.2:c.*326A>T	ENSP00000499256.2:n.*326A>T
ENST00000700202.2:c.9430A>T	ENSP00000514856.2:p.Lys3144Ter
ENST00000700202.1:c.1897A>T	ENSP00000514856.1:p.Lys633Ter
ENST00000700203.1:n.1608A>T
ENST00000380152.8:c.9481A>T MANE Select	ENSP00000369497.3:p.Lys3161Ter
ENST00000544455.6:c.9481A>T	ENSP00000439902.1:p.Lys3161Ter
ENST00000614259.2:c.9489A>T	ENSP00000506251.1:n.9489A>T
ENST00000665585.1:c.2359A>T
ENST00000666593.1:c.503A>T	ENSP00000499256.1:n.503A>T
ENST00000680887.1:c.9481A>T	ENSP00000505508.1:p.Lys3161Ter
ENST00000380152.7:c.9481A>T	ENSP00000369497.3:p.Lys3161Ter
ENST00000470094.1:c.438A>T
ENST00000544455.5:c.9481A>T	ENSP00000439902.1:p.Lys3161Ter
NM_000059.3:c.9481A>T , LRG_293t1:c.9481A>T	NP_000050.2:p.Lys3161Ter
XM_011535203.1:c.9481A>T	XP_011533505.1:p.Lys3161Ter
XM_011535204.1:c.9385A>T	XP_011533506.1:p.Lys3129Ter
NM_000059.4:c.9481A>T MANE Select	NP_000050.3:p.Lys3161Ter