Canonical Allele Identifier: CA026140

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52830
• ClinVar RCV Id: RCV000045811 ; RCV000113126 ; RCV000565952
• dbSNP Id: rs80359214
• MyVariant Identifiers: chr13:g.32893239G>T (hg19) ; chr13:g.32319102G>T (hg38)
• PubMed: PMID:10923033 ; PMID:16793542 ; PMID:19609323 ; PMID:20215541 ; PMID:22194698 ; PMID:22678057 ; PMID:24285729 ; PMID:27490902 ; PMID:28283652

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319102G>T , CM000675.2:g.32319102G>T	GRCh38
NC_000013.10:g.32893239G>T , CM000675.1:g.32893239G>T	GRCh37
NC_000013.9:g.31791239G>T	NCBI36
NG_012772.3:g.8623G>T , LRG_293:g.8623G>T
NG_017006.2:g.1262C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.93G>T	ENSP00000434898.2:p.Trp31Cys
ENST00000528762.2:c.93G>T	ENSP00000433168.2:p.Trp31Cys
ENST00000530893.7:c.-277G>T	ENSP00000499438.2:n.-277G>T
ENST00000665585.2:c.93G>T	ENSP00000499570.2:p.Trp31Cys
ENST00000666593.2:c.93G>T	ENSP00000499256.2:p.Trp31Cys
ENST00000700202.2:c.93G>T	ENSP00000514856.2:p.Trp31Cys
ENST00000700200.1:n.191+2575G>T
ENST00000700201.1:c.93G>T	ENSP00000514855.1:p.Trp31Cys
ENST00000380152.8:c.93G>T MANE Select	ENSP00000369497.3:p.Trp31Cys
ENST00000544455.6:c.93G>T	ENSP00000439902.1:p.Trp31Cys
ENST00000614259.2:c.93G>T	ENSP00000506251.1:p.Trp31Cys
ENST00000680887.1:c.93G>T	ENSP00000505508.1:p.Trp31Cys
ENST00000380152.7:c.93G>T	ENSP00000369497.3:p.Trp31Cys
ENST00000530893.6:n.291G>T
ENST00000544455.5:c.93G>T	ENSP00000439902.1:p.Trp31Cys
ENST00000614259.1:n.93G>T
NM_000059.3:c.93G>T , LRG_293t1:c.93G>T	NP_000050.2:p.Trp31Cys
XM_011535203.1:c.93G>T	XP_011533505.1:p.Trp31Cys
XM_011535204.1:c.93G>T	XP_011533506.1:p.Trp31Cys
XM_011535205.1:c.93G>T	XP_011533507.1:p.Trp31Cys
NM_000059.4:c.93G>T MANE Select	NP_000050.3:p.Trp31Cys