Canonical Allele Identifier: CA026037

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52779
• ClinVar RCV Id: RCV000045750 ; RCV000077464 ; RCV000130237 ; RCV000326170 ; RCV000656811 ; RCV000765143 ; RCV001114168
• dbSNP Id: rs80359186
• ExAC: 13:32954244 A / G
• gnomAD v2: 13-32954244-A-G
• MyVariant Identifiers: chr13:g.32954244A>G (hg19) ; chr13:g.32380107A>G (hg38)
• PubMed: PMID:10923033 ; PMID:16550498 ; PMID:19043619 ; PMID:23108138

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380107A>G , CM000675.2:g.32380107A>G	GRCh38
NC_000013.10:g.32954244A>G , CM000675.1:g.32954244A>G	GRCh37
NC_000013.9:g.31852244A>G	NCBI36
NG_012772.3:g.69628A>G , LRG_293:g.69628A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9218A>G	ENSP00000434898.2:p.Asp3073Gly
ENST00000528762.2:c.*585A>G	ENSP00000433168.2:n.*585A>G
ENST00000530893.7:c.8849A>G	ENSP00000499438.2:p.Asp2950Gly
ENST00000665585.2:c.*780A>G	ENSP00000499570.2:n.*780A>G
ENST00000666593.2:c.9218A>G	ENSP00000499256.2:p.Asp3073Gly
ENST00000700202.2:c.9167A>G	ENSP00000514856.2:p.Asp3056Gly
ENST00000700202.1:c.1634A>G	ENSP00000514856.1:p.Asp545Gly
ENST00000700203.1:n.1345A>G
ENST00000380152.8:c.9218A>G MANE Select	ENSP00000369497.3:p.Asp3073Gly
ENST00000544455.6:c.9218A>G	ENSP00000439902.1:p.Asp3073Gly
ENST00000614259.2:c.9226A>G	ENSP00000506251.1:n.9226A>G
ENST00000665585.1:c.2096A>G
ENST00000666593.1:c.101A>G	ENSP00000499256.1:p.Asp34Gly
ENST00000680887.1:c.9218A>G	ENSP00000505508.1:p.Asp3073Gly
ENST00000380152.7:c.9218A>G	ENSP00000369497.3:p.Asp3073Gly
ENST00000470094.1:c.175A>G
ENST00000544455.5:c.9218A>G	ENSP00000439902.1:p.Asp3073Gly
NM_000059.3:c.9218A>G , LRG_293t1:c.9218A>G	NP_000050.2:p.Asp3073Gly
XM_011535203.1:c.9218A>G	XP_011533505.1:p.Asp3073Gly
XM_011535204.1:c.9122A>G	XP_011533506.1:p.Asp3041Gly
NM_000059.4:c.9218A>G MANE Select	NP_000050.3:p.Asp3073Gly