Canonical Allele Identifier: CA6941285

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 231378
• ClinVar RCV Id: RCV000223550 ; RCV000257957 ; RCV000499406 ; RCV000768609 ; RCV001795355 ; RCV003234773 ; RCV003475018
• dbSNP Id: rs373203204
• ExAC: 13:32950860 C / T
• gnomAD v2: 13-32950860-C-T
• gnomAD v3: 13-32376723-C-T
• gnomAD v4: 13-32376723-C-T
• COSMIC: COSM1184867 ; COSM1184868
• MyVariant Identifiers: chr13:g.32950860C>T (hg19) ; chr13:g.32376723C>T (hg38)
• PubMed: PMID:22505045 ; PMID:25348012

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376723C>T , CM000675.2:g.32376723C>T	GRCh38
NC_000013.10:g.32950860C>T , CM000675.1:g.32950860C>T	GRCh37
NC_000013.9:g.31848860C>T	NCBI36
NG_012772.3:g.66244C>T , LRG_293:g.66244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8686C>T	ENSP00000434898.2:p.Arg2896Cys
ENST00000528762.2:c.*53C>T	ENSP00000433168.2:n.*53C>T
ENST00000530893.7:c.8317C>T	ENSP00000499438.2:p.Arg2773Cys
ENST00000665585.2:c.*248C>T	ENSP00000499570.2:n.*248C>T
ENST00000666593.2:c.8686C>T	ENSP00000499256.2:p.Arg2896Cys
ENST00000700202.2:c.8686C>T	ENSP00000514856.2:p.Arg2896Cys
ENST00000700202.1:c.1153C>T	ENSP00000514856.1:p.Arg385Cys
ENST00000700203.1:n.813C>T
ENST00000380152.8:c.8686C>T MANE Select	ENSP00000369497.3:p.Arg2896Cys
ENST00000544455.6:c.8686C>T	ENSP00000439902.1:p.Arg2896Cys
ENST00000614259.2:c.8694C>T	ENSP00000506251.1:n.8694C>T
ENST00000665585.1:c.1564C>T
ENST00000680887.1:c.8686C>T	ENSP00000505508.1:p.Arg2896Cys
ENST00000380152.7:c.8686C>T	ENSP00000369497.3:p.Arg2896Cys
ENST00000528762.1:c.248C>T	ENSP00000433168.1:n.248C>T
ENST00000544455.5:c.8686C>T	ENSP00000439902.1:p.Arg2896Cys
NM_000059.3:c.8686C>T , LRG_293t1:c.8686C>T	NP_000050.2:p.Arg2896Cys
XM_011535203.1:c.8686C>T	XP_011533505.1:p.Arg2896Cys
XM_011535204.1:c.8590C>T	XP_011533506.1:p.Arg2864Cys
XM_011535205.1:c.8686C>T	XP_011533507.1:p.Arg2896Cys
NM_000059.4:c.8686C>T MANE Select	NP_000050.3:p.Arg2896Cys