Canonical Allele Identifier: CA011067

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51077
• ClinVar RCV Id: RCV000043752 ; RCV000077252 ; RCV000165113 ; RCV000200974 ; RCV001798225 ; RCV001719793
• dbSNP Id: rs56016241
• ExAC: 13:32906796 A / C
• gnomAD v2: 13-32906796-A-C
• gnomAD v3: 13-32332659-A-C
• gnomAD v4: 13-32332659-A-C
• MyVariant Identifiers: chr13:g.32906796A>C (hg19) ; chr13:g.32332659A>C (hg38)
• PubMed: PMID:10923033 ; PMID:19619314 ; PMID:19818148 ; PMID:21120943 ; PMID:21218378

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332659A>C , CM000675.2:g.32332659A>C	GRCh38
NC_000013.10:g.32906796A>C , CM000675.1:g.32906796A>C	GRCh37
NC_000013.9:g.31804796A>C	NCBI36
NG_012772.3:g.22180A>C , LRG_293:g.22180A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1181A>C	ENSP00000434898.2:p.Glu394Ala
ENST00000528762.2:c.1181A>C	ENSP00000433168.2:p.Glu394Ala
ENST00000530893.7:c.812A>C	ENSP00000499438.2:p.Glu271Ala
ENST00000665585.2:c.1181A>C	ENSP00000499570.2:p.Glu394Ala
ENST00000666593.2:c.1181A>C	ENSP00000499256.2:p.Glu394Ala
ENST00000700202.2:c.1181A>C	ENSP00000514856.2:p.Glu394Ala
ENST00000700201.1:c.*960A>C	ENSP00000514855.1:n.*960A>C
ENST00000380152.8:c.1181A>C MANE Select	ENSP00000369497.3:p.Glu394Ala
ENST00000544455.6:c.1181A>C	ENSP00000439902.1:p.Glu394Ala
ENST00000614259.2:c.1181A>C	ENSP00000506251.1:p.Glu394Ala
ENST00000680887.1:c.1181A>C	ENSP00000505508.1:p.Glu394Ala
ENST00000380152.7:c.1181A>C	ENSP00000369497.3:p.Glu394Ala
ENST00000530893.6:n.1379A>C
ENST00000544455.5:c.1181A>C	ENSP00000439902.1:p.Glu394Ala
ENST00000614259.1:n.1181A>C
NM_000059.3:c.1181A>C , LRG_293t1:c.1181A>C	NP_000050.2:p.Glu394Ala
XM_011535203.1:c.1181A>C	XP_011533505.1:p.Glu394Ala
XM_011535204.1:c.1181A>C	XP_011533506.1:p.Glu394Ala
XM_011535205.1:c.1181A>C	XP_011533507.1:p.Glu394Ala
NM_000059.4:c.1181A>C MANE Select	NP_000050.3:p.Glu394Ala