Canonical Allele Identifier: CA026352

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141780
• ClinVar RCV Id: RCV000130425 ; RCV000197376 ; RCV000425781 ; RCV000989093 ; RCV001704055
• dbSNP Id: rs76635144
• ExAC: 13:32972636 A / G
• gnomAD v2: 13-32972636-A-G
• gnomAD v3: 13-32398499-A-G
• gnomAD v4: 13-32398499-A-G
• MyVariant Identifiers: chr13:g.32972636A>G (hg19) ; chr13:g.32398499A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398499A>G , CM000675.2:g.32398499A>G	GRCh38
NC_000013.10:g.32972636A>G , CM000675.1:g.32972636A>G	GRCh37
NC_000013.9:g.31870636A>G	NCBI36
NG_012772.3:g.88020A>G , LRG_293:g.88020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*509A>G	ENSP00000434898.2:n.*509A>G
ENST00000528762.2:c.*1353A>G	ENSP00000433168.2:n.*1353A>G
ENST00000530893.7:c.9617A>G	ENSP00000499438.2:p.Asn3206Ser
ENST00000665585.2:c.*1548A>G	ENSP00000499570.2:n.*1548A>G
ENST00000700202.2:c.9935A>G	ENSP00000514856.2:p.Asn3312Ser
ENST00000700202.1:c.2402A>G	ENSP00000514856.1:p.Asn801Ser
ENST00000700203.1:n.2113A>G
ENST00000380152.8:c.9986A>G MANE Select	ENSP00000369497.3:p.Asn3329Ser
ENST00000544455.6:c.9986A>G	ENSP00000439902.1:p.Asn3329Ser
ENST00000614259.2:c.9994A>G	ENSP00000506251.1:n.9994A>G
ENST00000680887.1:c.9986A>G	ENSP00000505508.1:p.Asn3329Ser
ENST00000380152.7:c.9986A>G	ENSP00000369497.3:p.Asn3329Ser
ENST00000544455.5:c.9986A>G	ENSP00000439902.1:p.Asn3329Ser
NM_000059.3:c.9986A>G , LRG_293t1:c.9986A>G	NP_000050.2:p.Asn3329Ser
XM_011535203.1:c.9986A>G	XP_011533505.1:p.Asn3329Ser
XM_011535204.1:c.9890A>G	XP_011533506.1:p.Asn3297Ser
NM_000059.4:c.9986A>G MANE Select	NP_000050.3:p.Asn3329Ser