Canonical Allele Identifier: CA483271001

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2128003
• ClinVar RCV Id: RCV003055776 ; RCV003170936
• gnomAD v4: 13-32394720-A-G
• MyVariant Identifiers: chr13:g.32968857A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394720A>G , CM000675.2:g.32394720A>G	GRCh38
NC_000013.10:g.32968857A>G , CM000675.1:g.32968857A>G	GRCh37
NC_000013.9:g.31866857A>G	NCBI36
NG_012772.3:g.84241A>G , LRG_293:g.84241A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9288A>G	ENSP00000434898.2:p.Glu3096=
ENST00000528762.2:c.*655A>G	ENSP00000433168.2:n.*655A>G
ENST00000530893.7:c.8919A>G	ENSP00000499438.2:p.Glu2973=
ENST00000665585.2:c.*850A>G	ENSP00000499570.2:n.*850A>G
ENST00000666593.2:c.*133A>G	ENSP00000499256.2:n.*133A>G
ENST00000700202.2:c.9237A>G	ENSP00000514856.2:p.Glu3079=
ENST00000700202.1:c.1704A>G	ENSP00000514856.1:p.Glu568=
ENST00000700203.1:n.1415A>G
ENST00000380152.8:c.9288A>G MANE Select	ENSP00000369497.3:p.Glu3096=
ENST00000544455.6:c.9288A>G	ENSP00000439902.1:p.Glu3096=
ENST00000614259.2:c.9296A>G	ENSP00000506251.1:n.9296A>G
ENST00000665585.1:c.2166A>G
ENST00000666593.1:c.310A>G	ENSP00000499256.1:n.310A>G
ENST00000680887.1:c.9288A>G	ENSP00000505508.1:p.Glu3096=
ENST00000380152.7:c.9288A>G	ENSP00000369497.3:p.Glu3096=
ENST00000470094.1:c.245A>G
ENST00000544455.5:c.9288A>G	ENSP00000439902.1:p.Glu3096=
NM_000059.3:c.9288A>G , LRG_293t1:c.9288A>G	NP_000050.2:p.Glu3096=
XM_011535203.1:c.9288A>G	XP_011533505.1:p.Glu3096=
XM_011535204.1:c.9192A>G	XP_011533506.1:p.Glu3064=
NM_000059.4:c.9288A>G MANE Select	NP_000050.3:p.Glu3096=