Canonical Allele Identifier: CA387765499

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1027012
• ClinVar RCV Id: RCV001327551
• dbSNP Id: rs1566260898
• MyVariant Identifiers: chr13:g.32972377C>A (hg19) ; chr13:g.32398240C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398240C>A , CM000675.2:g.32398240C>A	GRCh38
NC_000013.10:g.32972377C>A , CM000675.1:g.32972377C>A	GRCh37
NC_000013.9:g.31870377C>A	NCBI36
NG_012772.3:g.87761C>A , LRG_293:g.87761C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*250C>A	ENSP00000434898.2:n.*250C>A
ENST00000528762.2:c.*1094C>A	ENSP00000433168.2:n.*1094C>A
ENST00000530893.7:c.9358C>A	ENSP00000499438.2:p.Pro3120Thr
ENST00000665585.2:c.*1289C>A	ENSP00000499570.2:n.*1289C>A
ENST00000700202.2:c.9676C>A	ENSP00000514856.2:p.Pro3226Thr
ENST00000700202.1:c.2143C>A	ENSP00000514856.1:p.Pro715Thr
ENST00000700203.1:n.1854C>A
ENST00000380152.8:c.9727C>A MANE Select	ENSP00000369497.3:p.Pro3243Thr
ENST00000544455.6:c.9727C>A	ENSP00000439902.1:p.Pro3243Thr
ENST00000614259.2:c.9735C>A	ENSP00000506251.1:n.9735C>A
ENST00000680887.1:c.9727C>A	ENSP00000505508.1:p.Pro3243Thr
ENST00000380152.7:c.9727C>A	ENSP00000369497.3:p.Pro3243Thr
ENST00000470094.1:c.810C>A
ENST00000533776.1:n.315C>A
ENST00000544455.5:c.9727C>A	ENSP00000439902.1:p.Pro3243Thr
NM_000059.3:c.9727C>A , LRG_293t1:c.9727C>A	NP_000050.2:p.Pro3243Thr
XM_011535203.1:c.9727C>A	XP_011533505.1:p.Pro3243Thr
XM_011535204.1:c.9631C>A	XP_011533506.1:p.Pro3211Thr
NM_000059.4:c.9727C>A MANE Select	NP_000050.3:p.Pro3243Thr