Canonical Allele Identifier: CA024533

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52216
• ClinVar RCV Id: RCV000045083 ; RCV000077389 ; RCV000132016 ; RCV000174215 ; RCV000779926 ; RCV000765133
• dbSNP Id: rs80358912
• ExAC: 13:32918730 T / C
• gnomAD v2: 13-32918730-T-C
• gnomAD v4: 13-32344593-T-C
• MyVariant Identifiers: chr13:g.32918730T>C (hg19) ; chr13:g.32344593T>C (hg38)
• PubMed: PMID:10923033 ; PMID:12442275 ; PMID:15889636 ; PMID:21741379

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32344593T>C , CM000675.2:g.32344593T>C	GRCh38
NC_000013.10:g.32918730T>C , CM000675.1:g.32918730T>C	GRCh37
NC_000013.9:g.31816730T>C	NCBI36
NG_012772.3:g.34114T>C , LRG_293:g.34114T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.6877T>C	ENSP00000434898.2:p.Phe2293Leu
ENST00000528762.2:c.6877T>C	ENSP00000433168.2:p.Phe2293Leu
ENST00000530893.7:c.6508T>C	ENSP00000499438.2:p.Phe2170Leu
ENST00000665585.2:c.6877T>C	ENSP00000499570.2:p.Phe2293Leu
ENST00000666593.2:c.6877T>C	ENSP00000499256.2:p.Phe2293Leu
ENST00000700202.2:c.6877T>C	ENSP00000514856.2:p.Phe2293Leu
ENST00000380152.8:c.6877T>C MANE Select	ENSP00000369497.3:p.Phe2293Leu
ENST00000544455.6:c.6877T>C	ENSP00000439902.1:p.Phe2293Leu
ENST00000614259.2:c.6877T>C	ENSP00000506251.1:p.Phe2293Leu
ENST00000680887.1:c.6877T>C	ENSP00000505508.1:p.Phe2293Leu
ENST00000380152.7:c.6877T>C	ENSP00000369497.3:p.Phe2293Leu
ENST00000544455.5:c.6877T>C	ENSP00000439902.1:p.Phe2293Leu
ENST00000614259.1:n.6877T>C
NM_000059.3:c.6877T>C , LRG_293t1:c.6877T>C	NP_000050.2:p.Phe2293Leu
XM_011535203.1:c.6877T>C	XP_011533505.1:p.Phe2293Leu
XM_011535204.1:c.6842-2234T>C	XP_011533506.1:n.6842-2234T>C
XM_011535205.1:c.6877T>C	XP_011533507.1:p.Phe2293Leu
NM_000059.4:c.6877T>C MANE Select	NP_000050.3:p.Phe2293Leu