Canonical Allele Identifier: CA025346

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52443
• ClinVar RCV Id: RCV000083142 ; RCV000162550 ; RCV000486997 ; RCV004537206 ; RCV001379642
• dbSNP Id: rs80359021
• MyVariant Identifiers: chr13:g.32936794T>C (hg19) ; chr13:g.32362657T>C (hg38)
• PubMed: PMID:18451181 ; PMID:19043619 ; PMID:21990134 ; PMID:21990165 ; PMID:23108138

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362657T>C , CM000675.2:g.32362657T>C	GRCh38
NC_000013.10:g.32936794T>C , CM000675.1:g.32936794T>C	GRCh37
NC_000013.9:g.31834794T>C	NCBI36
NG_012772.3:g.52178T>C , LRG_293:g.52178T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7940T>C	ENSP00000434898.2:p.Leu2647Pro
ENST00000528762.2:c.7940T>C	ENSP00000433168.2:p.Leu2647Pro
ENST00000530893.7:c.7571T>C	ENSP00000499438.2:p.Leu2524Pro
ENST00000665585.2:c.7940T>C	ENSP00000499570.2:p.Leu2647Pro
ENST00000666593.2:c.7940T>C	ENSP00000499256.2:p.Leu2647Pro
ENST00000700202.2:c.7940T>C	ENSP00000514856.2:p.Leu2647Pro
ENST00000700202.1:c.407T>C	ENSP00000514856.1:p.Leu136Pro
ENST00000380152.8:c.7940T>C MANE Select	ENSP00000369497.3:p.Leu2647Pro
ENST00000544455.6:c.7940T>C	ENSP00000439902.1:p.Leu2647Pro
ENST00000614259.2:c.7948T>C	ENSP00000506251.1:p.Ter2650Gln
ENST00000665585.1:c.505T>C
ENST00000680887.1:c.7940T>C	ENSP00000505508.1:p.Leu2647Pro
ENST00000380152.7:c.7940T>C	ENSP00000369497.3:p.Leu2647Pro
ENST00000544455.5:c.7940T>C	ENSP00000439902.1:p.Leu2647Pro
ENST00000614259.1:n.7948T>C
NM_000059.3:c.7940T>C , LRG_293t1:c.7940T>C	NP_000050.2:p.Leu2647Pro
XM_011535203.1:c.7940T>C	XP_011533505.1:p.Leu2647Pro
XM_011535204.1:c.7844T>C	XP_011533506.1:p.Leu2615Pro
XM_011535205.1:c.7940T>C	XP_011533507.1:p.Leu2647Pro
NM_000059.4:c.7940T>C MANE Select	NP_000050.3:p.Leu2647Pro